Canonical Allele Identifier: CA2122504954

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21392760G= , CM000676.2:g.21392760G=	GRCh38
NC_000014.8:g.21860919G= , CM000676.1:g.21860919G=	GRCh37
NC_000014.7:g.20930759G=	NCBI36
NG_021249.1:g.49539C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.6518C= MANE Select	NP_001164100.1:p.Ser2173=
ENST00000646647.2:c.6518C= MANE Select	ENSP00000495240.1:p.Ser2173=
NM_001170629.1:c.6518C=	NP_001164100.1:p.Ser2173=
NM_020920.3:c.5681C=	NP_065971.2:p.Ser1894=
NM_020920.4:c.5681C=	NP_065971.2:p.Ser1894=
ENST00000399982.6:c.6518C=	ENSP00000382863.2:p.Ser2173=
ENST00000430710.7:c.5681C=	ENSP00000406288.3:p.Ser1894=
ENST00000430710.8:c.5681C=	ENSP00000406288.3:p.Ser1894=
ENST00000553870.1:c.29C=	ENSP00000451071.1:p.Ser10=
ENST00000553870.2:c.70C=
ENST00000555935.2:c.4218C=
ENST00000557364.5:c.6518C=	ENSP00000451601.1:p.Ser2173=
ENST00000557364.6:c.6518C=	ENSP00000451601.1:p.Ser2173=
ENST00000643469.1:c.6518C=	ENSP00000495070.1:p.Ser2173=
ENST00000645206.1:n.5674C=
ENST00000645929.1:c.5681C=	ENSP00000494402.1:p.Ser1894=