Canonical Allele Identifier: CA257594684

Gene: CHD8

Linked Data

• dbSNP Id: rs755975357
• gnomAD v2: 14-21863188-C-T
• gnomAD v4: 14-21395029-C-T
• COSMIC: COSM954426 ; COSM1587320
• MyVariant Identifiers: chr14:g.21863188C>T (hg19) ; chr14:g.21395029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395029C>T , CM000676.2:g.21395029C>T	GRCh38
NC_000014.8:g.21863188C>T , CM000676.1:g.21863188C>T	GRCh37
NC_000014.7:g.20933028C>T	NCBI36
NG_021249.1:g.47270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4436G>A	ENSP00000406288.3:p.Arg1479His
ENST00000555935.2:c.2973G>A
ENST00000555962.6:c.*658G>A	ENSP00000495174.1:n.*658G>A
ENST00000557364.6:c.5273G>A	ENSP00000451601.1:p.Arg1758His
ENST00000643469.1:c.5273G>A	ENSP00000495070.1:p.Arg1758His
ENST00000645206.1:n.4429G>A
ENST00000645929.1:c.4436G>A	ENSP00000494402.1:p.Arg1479His
ENST00000646340.1:c.5279G>A	ENSP00000496730.1:p.Arg1760His
ENST00000646647.2:c.5273G>A MANE Select	ENSP00000495240.1:p.Arg1758His
ENST00000399982.6:c.5273G>A	ENSP00000382863.2:p.Arg1758His
ENST00000430710.7:c.4436G>A	ENSP00000406288.3:p.Arg1479His
ENST00000555962.5:n.1227G>A
ENST00000557364.5:c.5273G>A	ENSP00000451601.1:p.Arg1758His
NM_001170629.1:c.5273G>A	NP_001164100.1:p.Arg1758His
NM_020920.3:c.4436G>A	NP_065971.2:p.Arg1479His
NM_001170629.2:c.5273G>A MANE Select	NP_001164100.1:p.Arg1758His
NM_020920.4:c.4436G>A	NP_065971.2:p.Arg1479His