Canonical Allele Identifier: CA388884176

Gene: CHD8

Linked Data

• ClinVar Variation Id: 3009462
• ClinVar RCV Id: RCV003869613
• gnomAD v4: 14-21395050-C-T
• MyVariant Identifiers: chr14:g.21863209C>T (hg19) ; chr14:g.21395050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395050C>T , CM000676.2:g.21395050C>T	GRCh38
NC_000014.8:g.21863209C>T , CM000676.1:g.21863209C>T	GRCh37
NC_000014.7:g.20933049C>T	NCBI36
NG_021249.1:g.47249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4415G>A	ENSP00000406288.3:p.Arg1472His
ENST00000555935.2:c.2952G>A
ENST00000555962.6:c.*637G>A	ENSP00000495174.1:n.*637G>A
ENST00000557364.6:c.5252G>A	ENSP00000451601.1:p.Arg1751His
ENST00000643469.1:c.5252G>A	ENSP00000495070.1:p.Arg1751His
ENST00000645206.1:n.4408G>A
ENST00000645929.1:c.4415G>A	ENSP00000494402.1:p.Arg1472His
ENST00000646340.1:c.5258G>A	ENSP00000496730.1:p.Arg1753His
ENST00000646647.2:c.5252G>A MANE Select	ENSP00000495240.1:p.Arg1751His
ENST00000399982.6:c.5252G>A	ENSP00000382863.2:p.Arg1751His
ENST00000430710.7:c.4415G>A	ENSP00000406288.3:p.Arg1472His
ENST00000555962.5:n.1206G>A
ENST00000557364.5:c.5252G>A	ENSP00000451601.1:p.Arg1751His
NM_001170629.1:c.5252G>A	NP_001164100.1:p.Arg1751His
NM_020920.3:c.4415G>A	NP_065971.2:p.Arg1472His
NM_001170629.2:c.5252G>A MANE Select	NP_001164100.1:p.Arg1751His
NM_020920.4:c.4415G>A	NP_065971.2:p.Arg1472His