Canonical Allele Identifier: CA2122506170

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429155G= , CM000676.2:g.21429155G=	GRCh38
NC_000014.8:g.21897314G= , CM000676.1:g.21897314G=	GRCh37
NC_000014.7:g.20967154G=	NCBI36
NG_021249.1:g.13144C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.187C=	ENSP00000406288.3:p.Leu63=
ENST00000553651.2:n.2830C=
ENST00000555962.6:c.-111+2656C=	ENSP00000495174.1:n.-111+2656C=
ENST00000557364.6:c.1024C=	ENSP00000451601.1:p.Leu342=
ENST00000642518.1:c.187C=	ENSP00000496722.1:p.Leu63=
ENST00000643048.1:n.1319C=
ENST00000643469.1:c.1024C=	ENSP00000495070.1:p.Leu342=
ENST00000645140.1:c.936C=
ENST00000645929.1:c.187C=	ENSP00000494402.1:p.Leu63=
ENST00000646063.1:c.1111C=	ENSP00000496565.1:p.Leu371=
ENST00000646340.1:c.1030C=	ENSP00000496730.1:p.Leu344=
ENST00000646647.2:c.1024C= MANE Select	ENSP00000495240.1:p.Leu342=
ENST00000399982.6:c.1024C=	ENSP00000382863.2:p.Leu342=
ENST00000430710.7:c.187C=	ENSP00000406288.3:p.Leu63=
ENST00000553283.1:c.277C=	ENSP00000450860.1:p.Leu93=
ENST00000555962.5:n.150+2656C=
ENST00000557364.5:c.1024C=	ENSP00000451601.1:p.Leu342=
NM_001170629.1:c.1024C=	NP_001164100.1:p.Leu342=
NM_020920.3:c.187C=	NP_065971.2:p.Leu63=
NM_001170629.2:c.1024C= MANE Select	NP_001164100.1:p.Leu342=
NM_020920.4:c.187C=	NP_065971.2:p.Leu63=