Canonical Allele Identifier: CA2122506222

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429285A= , CM000676.2:g.21429285A=	GRCh38
NC_000014.8:g.21897444A= , CM000676.1:g.21897444A=	GRCh37
NC_000014.7:g.20967284A=	NCBI36
NG_021249.1:g.13014T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.57T=	ENSP00000406288.3:p.Gly19=
ENST00000553651.2:n.2700T=
ENST00000555962.6:c.-111+2526T=	ENSP00000495174.1:n.-111+2526T=
ENST00000557364.6:c.894T=	ENSP00000451601.1:p.Gly298=
ENST00000642518.1:c.57T=	ENSP00000496722.1:p.Gly19=
ENST00000643048.1:n.1189T=
ENST00000643469.1:c.894T=	ENSP00000495070.1:p.Gly298=
ENST00000645140.1:c.806T=
ENST00000645929.1:c.57T=	ENSP00000494402.1:p.Gly19=
ENST00000646063.1:c.981T=	ENSP00000496565.1:p.Gly327=
ENST00000646340.1:c.900T=	ENSP00000496730.1:p.Gly300=
ENST00000646647.2:c.894T= MANE Select	ENSP00000495240.1:p.Gly298=
ENST00000399982.6:c.894T=	ENSP00000382863.2:p.Gly298=
ENST00000430710.7:c.57T=	ENSP00000406288.3:p.Gly19=
ENST00000553283.1:c.147T=	ENSP00000450860.1:p.Gly49=
ENST00000555962.5:n.150+2526T=
ENST00000557364.5:c.894T=	ENSP00000451601.1:p.Gly298=
NM_001170629.1:c.894T=	NP_001164100.1:p.Gly298=
NM_020920.3:c.57T=	NP_065971.2:p.Gly19=
NM_001170629.2:c.894T= MANE Select	NP_001164100.1:p.Gly298=
NM_020920.4:c.57T=	NP_065971.2:p.Gly19=