Canonical Allele Identifier: CA2122486912

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21395019C= , CM000676.2:g.21395019C=	GRCh38
NC_000014.8:g.21863178C= , CM000676.1:g.21863178C=	GRCh37
NC_000014.7:g.20933018C=	NCBI36
NG_021249.1:g.47280G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4446G=	ENSP00000406288.3:p.Lys1482=
ENST00000555935.2:c.2983G=
ENST00000555962.6:c.*668G=	ENSP00000495174.1:n.*668G=
ENST00000557364.6:c.5283G=	ENSP00000451601.1:p.Lys1761=
ENST00000643469.1:c.5283G=	ENSP00000495070.1:p.Lys1761=
ENST00000645206.1:n.4439G=
ENST00000645929.1:c.4446G=	ENSP00000494402.1:p.Lys1482=
ENST00000646340.1:c.5289G=	ENSP00000496730.1:p.Lys1763=
ENST00000646647.2:c.5283G= MANE Select	ENSP00000495240.1:p.Lys1761=
ENST00000399982.6:c.5283G=	ENSP00000382863.2:p.Lys1761=
ENST00000430710.7:c.4446G=	ENSP00000406288.3:p.Lys1482=
ENST00000557364.5:c.5283G=	ENSP00000451601.1:p.Lys1761=
NM_001170629.1:c.5283G=	NP_001164100.1:p.Lys1761=
NM_020920.3:c.4446G=	NP_065971.2:p.Lys1482=
NM_001170629.2:c.5283G= MANE Select	NP_001164100.1:p.Lys1761=
NM_020920.4:c.4446G=	NP_065971.2:p.Lys1482=