Canonical Allele Identifier: CA7091852

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1496076
• ClinVar RCV Id: RCV002015435
• dbSNP Id: rs759245173
• ExAC: 14:21897281 T / A
• gnomAD v2: 14-21897281-T-A
• gnomAD v4: 14-21429122-T-A
• MyVariant Identifiers: chr14:g.21897281T>A (hg19) ; chr14:g.21429122T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429122T>A , CM000676.2:g.21429122T>A	GRCh38
NC_000014.8:g.21897281T>A , CM000676.1:g.21897281T>A	GRCh37
NC_000014.7:g.20967121T>A	NCBI36
NG_021249.1:g.13177A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.220A>T	ENSP00000406288.3:p.Ile74Phe
ENST00000553651.2:n.2863A>T
ENST00000555962.6:c.-111+2689A>T	ENSP00000495174.1:n.-111+2689A>T
ENST00000557364.6:c.1057A>T	ENSP00000451601.1:p.Ile353Phe
ENST00000642518.1:c.220A>T	ENSP00000496722.1:p.Ile74Phe
ENST00000643048.1:n.1352A>T
ENST00000643469.1:c.1057A>T	ENSP00000495070.1:p.Ile353Phe
ENST00000645140.1:c.969A>T
ENST00000645929.1:c.220A>T	ENSP00000494402.1:p.Ile74Phe
ENST00000646063.1:c.1144A>T	ENSP00000496565.1:p.Ile382Phe
ENST00000646340.1:c.1063A>T	ENSP00000496730.1:p.Ile355Phe
ENST00000646647.2:c.1057A>T MANE Select	ENSP00000495240.1:p.Ile353Phe
ENST00000399982.6:c.1057A>T	ENSP00000382863.2:p.Ile353Phe
ENST00000430710.7:c.220A>T	ENSP00000406288.3:p.Ile74Phe
ENST00000555962.5:n.150+2689A>T
ENST00000557364.5:c.1057A>T	ENSP00000451601.1:p.Ile353Phe
NM_001170629.1:c.1057A>T	NP_001164100.1:p.Ile353Phe
NM_020920.3:c.220A>T	NP_065971.2:p.Ile74Phe
NM_001170629.2:c.1057A>T MANE Select	NP_001164100.1:p.Ile353Phe
NM_020920.4:c.220A>T	NP_065971.2:p.Ile74Phe