Human (GRCh38.p14)
Description

structural maintenance of chromosomes flexible hinge domain containing 1 [Source:HGNC Symbol;Acc:HGNC:29090]

Gene Synonyms

FSHD2, KIAA0650

Location
About this transcript

This transcript has 14 exons, is associated with 23957 variant alleles and maps to 419 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000320876.11SMCHD1-20188332005aaENSP00000326603.7
 
Protein coding
CCDS45822A6NHR9-1 NM_015295.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:5
ENST00000688342.1SMCHD1-22064881961aaENSP00000508422.1
 
Protein coding
A0A8I5KRS9 -GENCODE basicAPPRIS ALT2
ENST00000577880.5SMCHD1-20349511388aaENSP00000463049.1
 
Nonsense mediated decay
J3KTL8 -TSL:2CDS 5' incomplete
ENST00000584897.5SMCHD1-2114143150aaENSP00000464684.1
 
Nonsense mediated decay
J3QSH1 -TSL:2CDS 5' incomplete
ENST00000686763.1SMCHD1-2183793385aaENSP00000510263.1
 
Nonsense mediated decay
A0A8I5KQZ7 --
ENST00000686864.1SMCHD1-2193384748aaENSP00000509148.1
 
Nonsense mediated decay
A0A8I5KW02 -CDS 5' incomplete
ENST00000645355.1SMCHD1-2152315212aaENSP00000495392.1
 
Nonsense mediated decay
A0A2R8YE92 -CDS 5' incomplete
ENST00000642953.1SMCHD1-2141263308aaENSP00000493989.1
 
Nonsense mediated decay
A0A2R8YCU7 -CDS 5' incomplete
ENST00000585229.1SMCHD1-21255549aaENSP00000462050.1
 
Nonsense mediated decay
J3KRK8 -TSL:4CDS 5' incomplete
ENST00000690757.1SMCHD1-2252084No protein-
 
Protein coding CDS not defined
---
ENST00000583800.1SMCHD1-210865No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000609587.1SMCHD1-213460No protein-
 
Protein coding CDS not defined
--TSL:NA
ENST00000693213.1SMCHD1-2266737No protein-
 
Retained intron
---
ENST00000688708.1SMCHD1-2215410No protein-
 
Retained intron
---
ENST00000689034.1SMCHD1-2234628No protein-
 
Retained intron
---
ENST00000583441.2SMCHD1-2094228No protein-
 
Retained intron
--TSL:5
ENST00000684915.1SMCHD1-2163534No protein-
 
Retained intron
---
ENST00000688964.1SMCHD1-2223190No protein-
 
Retained intron
---
ENST00000693522.1SMCHD1-2273151No protein-
 
Retained intron
---
ENST00000685656.1SMCHD1-2172988No protein-
 
Retained intron
---
ENST00000689800.1SMCHD1-2242798No protein-
 
Retained intron
---
ENST00000583344.2SMCHD1-2081124No protein-
 
Retained intron
--TSL:2
ENST00000581383.1SMCHD1-205806No protein-
 
Retained intron
--TSL:3
ENST00000581631.1SMCHD1-206729No protein-
 
Retained intron
--TSL:3
ENST00000581711.1SMCHD1-207546No protein-
 
Retained intron
--TSL:4
ENST00000577300.1SMCHD1-202506No protein-
 
Retained intron
--TSL:3
ENST00000581226.1SMCHD1-204459No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 14, Coding exons: 0, Transcript length: 3,534 bps,

Version

ENST00000684915.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Annotation Attributes

RNA-Seq supported only [Definitions]