Canonical Allele Identifier: CA2122497149

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21402485G= , CM000676.2:g.21402485G=	GRCh38
NC_000014.8:g.21870644G= , CM000676.1:g.21870644G=	GRCh37
NC_000014.7:g.20940484G=	NCBI36
NG_021249.1:g.39814C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.3733C= MANE Select	NP_001164100.1:p.Arg1245=
ENST00000646647.2:c.3733C= MANE Select	ENSP00000495240.1:p.Arg1245=
NM_001170629.1:c.3733C=	NP_001164100.1:p.Arg1245=
NM_020920.3:c.2896C=	NP_065971.2:p.Arg966=
NM_020920.4:c.2896C=	NP_065971.2:p.Arg966=
ENST00000399982.6:c.3733C=	ENSP00000382863.2:p.Arg1245=
ENST00000430710.7:c.2896C=	ENSP00000406288.3:p.Arg966=
ENST00000430710.8:c.2896C=	ENSP00000406288.3:p.Arg966=
ENST00000555935.1:c.1409C=
ENST00000555935.2:c.1409C=
ENST00000555962.5:n.195C=
ENST00000555962.6:c.-66C=	ENSP00000495174.1:n.-66C=
ENST00000557364.5:c.3733C=	ENSP00000451601.1:p.Arg1245=
ENST00000557364.6:c.3733C=	ENSP00000451601.1:p.Arg1245=
ENST00000643469.1:c.3733C=	ENSP00000495070.1:p.Arg1245=
ENST00000645206.1:n.2247C=
ENST00000645929.1:c.2896C=	ENSP00000494402.1:p.Arg966=
ENST00000646340.1:c.3739C=	ENSP00000496730.1:p.Arg1247=