Canonical Allele Identifier: CA388877147

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21859698T>A (hg19) ; chr14:g.21391539T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21391539T>A , CM000676.2:g.21391539T>A	GRCh38
NC_000014.8:g.21859698T>A , CM000676.1:g.21859698T>A	GRCh37
NC_000014.7:g.20929538T>A	NCBI36
NG_021249.1:g.50760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.6152A>T	ENSP00000406288.3:p.Asp2051Val
ENST00000553870.2:c.437+294A>T
ENST00000555935.2:c.4689A>T
ENST00000557364.6:c.6989A>T	ENSP00000451601.1:p.Asp2330Val
ENST00000643469.1:c.6989A>T	ENSP00000495070.1:p.Asp2330Val
ENST00000645206.1:n.6145A>T
ENST00000645929.1:c.6152A>T	ENSP00000494402.1:p.Asp2051Val
ENST00000646647.2:c.6989A>T MANE Select	ENSP00000495240.1:p.Asp2330Val
ENST00000399982.6:c.6989A>T	ENSP00000382863.2:p.Asp2330Val
ENST00000430710.7:c.6152A>T	ENSP00000406288.3:p.Asp2051Val
ENST00000553870.1:c.396+294A>T	ENSP00000451071.1:n.396+294A>T
ENST00000557364.5:c.6989A>T	ENSP00000451601.1:p.Asp2330Val
NM_001170629.1:c.6989A>T	NP_001164100.1:p.Asp2330Val
NM_020920.3:c.6152A>T	NP_065971.2:p.Asp2051Val
XR_001750627.1:n.751T>A
NM_001170629.2:c.6989A>T MANE Select	NP_001164100.1:p.Asp2330Val
NM_020920.4:c.6152A>T	NP_065971.2:p.Asp2051Val