Canonical Allele Identifier: CA2122494447

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400569G= , CM000676.2:g.21400569G=	GRCh38
NC_000014.8:g.21868728G= , CM000676.1:g.21868728G=	GRCh37
NC_000014.7:g.20938568G=	NCBI36
NG_021249.1:g.41730C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3577C=	ENSP00000406288.3:p.Arg1193=
ENST00000555935.2:c.2090C=
ENST00000555962.6:c.265-262C=	ENSP00000495174.1:n.265-262C=
ENST00000557364.6:c.4414C=	ENSP00000451601.1:p.Arg1472=
ENST00000643469.1:c.4414C=	ENSP00000495070.1:p.Arg1472=
ENST00000645206.1:n.2928C=
ENST00000645929.1:c.3577C=	ENSP00000494402.1:p.Arg1193=
ENST00000646340.1:c.4420C=	ENSP00000496730.1:p.Arg1474=
ENST00000646558.1:n.1230C=
ENST00000646647.2:c.4414C= MANE Select	ENSP00000495240.1:p.Arg1472=
ENST00000399982.6:c.4414C=	ENSP00000382863.2:p.Arg1472=
ENST00000430710.7:c.3577C=	ENSP00000406288.3:p.Arg1193=
ENST00000555935.1:c.2090C=
ENST00000555962.5:n.525-262C=
ENST00000557364.5:c.4414C=	ENSP00000451601.1:p.Arg1472=
NM_001170629.1:c.4414C=	NP_001164100.1:p.Arg1472=
NM_020920.3:c.3577C=	NP_065971.2:p.Arg1193=
NM_001170629.2:c.4414C= MANE Select	NP_001164100.1:p.Arg1472=
NM_020920.4:c.3577C=	NP_065971.2:p.Arg1193=