Canonical Allele Identifier: CA2122506054

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393571A= , CM000676.2:g.21393571A=	GRCh38
NC_000014.8:g.21861730A= , CM000676.1:g.21861730A=	GRCh37
NC_000014.7:g.20931570A=	NCBI36
NG_021249.1:g.48728T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5387T=	ENSP00000406288.3:p.Leu1796=
ENST00000555935.2:c.3924T=
ENST00000557364.6:c.6224T=	ENSP00000451601.1:p.Leu2075=
ENST00000643469.1:c.6224T=	ENSP00000495070.1:p.Leu2075=
ENST00000645206.1:n.5380T=
ENST00000645929.1:c.5387T=	ENSP00000494402.1:p.Leu1796=
ENST00000646647.2:c.6224T= MANE Select	ENSP00000495240.1:p.Leu2075=
ENST00000399982.6:c.6224T=	ENSP00000382863.2:p.Leu2075=
ENST00000430710.7:c.5387T=	ENSP00000406288.3:p.Leu1796=
ENST00000557364.5:c.6224T=	ENSP00000451601.1:p.Leu2075=
NM_001170629.1:c.6224T=	NP_001164100.1:p.Leu2075=
NM_020920.3:c.5387T=	NP_065971.2:p.Leu1796=
NM_001170629.2:c.6224T= MANE Select	NP_001164100.1:p.Leu2075=
NM_020920.4:c.5387T=	NP_065971.2:p.Leu1796=