Canonical Allele Identifier: CA2122502271

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405723G= , CM000676.2:g.21405723G=	GRCh38
NC_000014.8:g.21873882G= , CM000676.1:g.21873882G=	GRCh37
NC_000014.7:g.20943722G=	NCBI36
NG_021249.1:g.36576C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2212C=	ENSP00000406288.3:p.Gln738=
ENST00000555935.2:c.725C=
ENST00000555962.6:c.-110-2681C=	ENSP00000495174.1:n.-110-2681C=
ENST00000557364.6:c.3049C=	ENSP00000451601.1:p.Gln1017=
ENST00000643469.1:c.3049C=	ENSP00000495070.1:p.Gln1017=
ENST00000645140.1:c.2961C=
ENST00000645206.1:n.1563C=
ENST00000645929.1:c.2212C=	ENSP00000494402.1:p.Gln738=
ENST00000646340.1:c.3055C=	ENSP00000496730.1:p.Gln1019=
ENST00000646647.2:c.3049C= MANE Select	ENSP00000495240.1:p.Gln1017=
ENST00000399982.6:c.3049C=	ENSP00000382863.2:p.Gln1017=
ENST00000430710.7:c.2212C=	ENSP00000406288.3:p.Gln738=
ENST00000555935.1:c.725C=
ENST00000555962.5:n.151-2681C=
ENST00000557364.5:c.3049C=	ENSP00000451601.1:p.Gln1017=
NM_001170629.1:c.3049C=	NP_001164100.1:p.Gln1017=
NM_020920.3:c.2212C=	NP_065971.2:p.Gln738=
NM_001170629.2:c.3049C= MANE Select	NP_001164100.1:p.Gln1017=
NM_020920.4:c.2212C=	NP_065971.2:p.Gln738=