Canonical Allele Identifier: CA7090991

Gene: CHD8

Linked Data

• dbSNP Id: rs536360321
• ExAC: 14:21863138 G / A
• gnomAD v2: 14-21863138-G-A
• gnomAD v3: 14-21394979-G-A
• gnomAD v4: 14-21394979-G-A
• MyVariant Identifiers: chr14:g.21863138G>A (hg19) ; chr14:g.21394979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21394979G>A , CM000676.2:g.21394979G>A	GRCh38
NC_000014.8:g.21863138G>A , CM000676.1:g.21863138G>A	GRCh37
NC_000014.7:g.20932978G>A	NCBI36
NG_021249.1:g.47320C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4486C>T	ENSP00000406288.3:p.Arg1496Trp
ENST00000555935.2:c.3023C>T
ENST00000555962.6:c.*708C>T	ENSP00000495174.1:n.*708C>T
ENST00000557364.6:c.5323C>T	ENSP00000451601.1:p.Arg1775Trp
ENST00000643469.1:c.5323C>T	ENSP00000495070.1:p.Arg1775Trp
ENST00000645206.1:n.4479C>T
ENST00000645929.1:c.4486C>T	ENSP00000494402.1:p.Arg1496Trp
ENST00000646340.1:c.5329C>T	ENSP00000496730.1:p.Arg1777Trp
ENST00000646647.2:c.5323C>T MANE Select	ENSP00000495240.1:p.Arg1775Trp
ENST00000399982.6:c.5323C>T	ENSP00000382863.2:p.Arg1775Trp
ENST00000430710.7:c.4486C>T	ENSP00000406288.3:p.Arg1496Trp
ENST00000555301.1:n.36C>T
ENST00000557364.5:c.5323C>T	ENSP00000451601.1:p.Arg1775Trp
NM_001170629.1:c.5323C>T	NP_001164100.1:p.Arg1775Trp
NM_020920.3:c.4486C>T	NP_065971.2:p.Arg1496Trp
NM_001170629.2:c.5323C>T MANE Select	NP_001164100.1:p.Arg1775Trp
NM_020920.4:c.4486C>T	NP_065971.2:p.Arg1496Trp