Canonical Allele Identifier: CA388885219

Gene: CHD8

Linked Data

• ClinVar Variation Id: 589689
• ClinVar RCV Id: RCV001766584 ; RCV002316914
• dbSNP Id: rs1566444686
• MyVariant Identifiers: chr14:g.21897346T>C (hg19) ; chr14:g.21429187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429187T>C , CM000676.2:g.21429187T>C	GRCh38
NC_000014.8:g.21897346T>C , CM000676.1:g.21897346T>C	GRCh37
NC_000014.7:g.20967186T>C	NCBI36
NG_021249.1:g.13112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.155A>G	ENSP00000406288.3:p.Gln52Arg
ENST00000553651.2:n.2798A>G
ENST00000555962.6:c.-111+2624A>G	ENSP00000495174.1:n.-111+2624A>G
ENST00000557364.6:c.992A>G	ENSP00000451601.1:p.Gln331Arg
ENST00000642518.1:c.155A>G	ENSP00000496722.1:p.Gln52Arg
ENST00000643048.1:n.1287A>G
ENST00000643469.1:c.992A>G	ENSP00000495070.1:p.Gln331Arg
ENST00000645140.1:c.904A>G
ENST00000645929.1:c.155A>G	ENSP00000494402.1:p.Gln52Arg
ENST00000646063.1:c.1079A>G	ENSP00000496565.1:p.Gln360Arg
ENST00000646340.1:c.998A>G	ENSP00000496730.1:p.Gln333Arg
ENST00000646647.2:c.992A>G MANE Select	ENSP00000495240.1:p.Gln331Arg
ENST00000399982.6:c.992A>G	ENSP00000382863.2:p.Gln331Arg
ENST00000430710.7:c.155A>G	ENSP00000406288.3:p.Gln52Arg
ENST00000553283.1:c.245A>G	ENSP00000450860.1:p.Gln82Arg
ENST00000555962.5:n.150+2624A>G
ENST00000557364.5:c.992A>G	ENSP00000451601.1:p.Gln331Arg
NM_001170629.1:c.992A>G	NP_001164100.1:p.Gln331Arg
NM_020920.3:c.155A>G	NP_065971.2:p.Gln52Arg
NM_001170629.2:c.992A>G MANE Select	NP_001164100.1:p.Gln331Arg
NM_020920.4:c.155A>G	NP_065971.2:p.Gln52Arg