Canonical Allele Identifier: CA2122506005

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429003T= , CM000676.2:g.21429003T=	GRCh38
NC_000014.8:g.21897162T= , CM000676.1:g.21897162T=	GRCh37
NC_000014.7:g.20967002T=	NCBI36
NG_021249.1:g.13296A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.339A=	ENSP00000406288.3:p.Gln113=
ENST00000553651.2:n.2982A=
ENST00000555962.6:c.-111+2808A=	ENSP00000495174.1:n.-111+2808A=
ENST00000557364.6:c.1176A=	ENSP00000451601.1:p.Gln392=
ENST00000642518.1:c.339A=	ENSP00000496722.1:p.Gln113=
ENST00000643048.1:n.1471A=
ENST00000643469.1:c.1176A=	ENSP00000495070.1:p.Gln392=
ENST00000645140.1:c.1088A=
ENST00000645929.1:c.339A=	ENSP00000494402.1:p.Gln113=
ENST00000646063.1:c.1263A=	ENSP00000496565.1:p.Gln421=
ENST00000646340.1:c.1182A=	ENSP00000496730.1:p.Gln394=
ENST00000646647.2:c.1176A= MANE Select	ENSP00000495240.1:p.Gln392=
ENST00000399982.6:c.1176A=	ENSP00000382863.2:p.Gln392=
ENST00000430710.7:c.339A=	ENSP00000406288.3:p.Gln113=
ENST00000555962.5:n.150+2808A=
ENST00000557364.5:c.1176A=	ENSP00000451601.1:p.Gln392=
NM_001170629.1:c.1176A=	NP_001164100.1:p.Gln392=
NM_020920.3:c.339A=	NP_065971.2:p.Gln113=
NM_001170629.2:c.1176A= MANE Select	NP_001164100.1:p.Gln392=
NM_020920.4:c.339A=	NP_065971.2:p.Gln113=