Canonical Allele Identifier: CA2122489371

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415580C= , CM000676.2:g.21415580C=	GRCh38
NC_000014.8:g.21883739C= , CM000676.1:g.21883739C=	GRCh37
NC_000014.7:g.20953579C=	NCBI36
NG_021249.1:g.26719G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1125G=	ENSP00000406288.3:p.Lys375=
ENST00000555962.6:c.-110-12538G=	ENSP00000495174.1:n.-110-12538G=
ENST00000557364.6:c.1962G=	ENSP00000451601.1:p.Lys654=
ENST00000642914.1:n.945G=
ENST00000643469.1:c.1962G=	ENSP00000495070.1:p.Lys654=
ENST00000645140.1:c.1874G=
ENST00000645206.1:n.476G=
ENST00000645929.1:c.1125G=	ENSP00000494402.1:p.Lys375=
ENST00000646340.1:c.1968G=	ENSP00000496730.1:p.Lys656=
ENST00000646647.2:c.1962G= MANE Select	ENSP00000495240.1:p.Lys654=
ENST00000399982.6:c.1962G=	ENSP00000382863.2:p.Lys654=
ENST00000430710.7:c.1125G=	ENSP00000406288.3:p.Lys375=
ENST00000555962.5:n.151-12538G=
ENST00000557364.5:c.1962G=	ENSP00000451601.1:p.Lys654=
NM_001170629.1:c.1962G=	NP_001164100.1:p.Lys654=
NM_020920.3:c.1125G=	NP_065971.2:p.Lys375=
NM_001170629.2:c.1962G= MANE Select	NP_001164100.1:p.Lys654=
NM_020920.4:c.1125G=	NP_065971.2:p.Lys375=