Canonical Allele Identifier: CA2122507106

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21431292C= , CM000676.2:g.21431292C=	GRCh38
NC_000014.8:g.21899451C= , CM000676.1:g.21899451C=	GRCh37
NC_000014.7:g.20969291C=	NCBI36
NG_021249.1:g.11007G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.6+519G=	ENSP00000406288.3:n.6+519G=
ENST00000553651.2:n.693G=
ENST00000555962.6:c.-111+519G=	ENSP00000495174.1:n.-111+519G=
ENST00000557364.6:c.352G=	ENSP00000451601.1:p.Gly118=
ENST00000642518.1:c.6+519G=	ENSP00000496722.1:n.6+519G=
ENST00000643048.1:n.647G=
ENST00000643469.1:c.352G=	ENSP00000495070.1:p.Gly118=
ENST00000645140.1:c.264G=
ENST00000645929.1:c.6+519G=	ENSP00000494402.1:n.6+519G=
ENST00000646063.1:c.439G=	ENSP00000496565.1:p.Gly147=
ENST00000646340.1:c.358G=	ENSP00000496730.1:p.Gly120=
ENST00000646647.2:c.352G= MANE Select	ENSP00000495240.1:p.Gly118=
ENST00000399982.6:c.352G=	ENSP00000382863.2:p.Gly118=
ENST00000430710.7:c.6+519G=	ENSP00000406288.3:n.6+519G=
ENST00000553283.1:c.97-1957G=	ENSP00000450860.1:n.97-1957G=
ENST00000553622.5:c.277G=	ENSP00000450957.1:p.Gly93=
ENST00000555962.5:n.150+519G=
ENST00000557364.5:c.352G=	ENSP00000451601.1:p.Gly118=
NM_001170629.1:c.352G=	NP_001164100.1:p.Gly118=
NM_020920.3:c.6+519G=	NP_065971.2:n.6+519G=
NM_001170629.2:c.352G= MANE Select	NP_001164100.1:p.Gly118=
NM_020920.4:c.6+519G=	NP_065971.2:n.6+519G=