Canonical Allele Identifier: CA2122506063

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393578G= , CM000676.2:g.21393578G=	GRCh38
NC_000014.8:g.21861737G= , CM000676.1:g.21861737G=	GRCh37
NC_000014.7:g.20931577G=	NCBI36
NG_021249.1:g.48721C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5380C=	ENSP00000406288.3:p.Leu1794=
ENST00000555935.2:c.3917C=
ENST00000557364.6:c.6217C=	ENSP00000451601.1:p.Leu2073=
ENST00000643469.1:c.6217C=	ENSP00000495070.1:p.Leu2073=
ENST00000645206.1:n.5373C=
ENST00000645929.1:c.5380C=	ENSP00000494402.1:p.Leu1794=
ENST00000646647.2:c.6217C= MANE Select	ENSP00000495240.1:p.Leu2073=
ENST00000399982.6:c.6217C=	ENSP00000382863.2:p.Leu2073=
ENST00000430710.7:c.5380C=	ENSP00000406288.3:p.Leu1794=
ENST00000557364.5:c.6217C=	ENSP00000451601.1:p.Leu2073=
NM_001170629.1:c.6217C=	NP_001164100.1:p.Leu2073=
NM_020920.3:c.5380C=	NP_065971.2:p.Leu1794=
NM_001170629.2:c.6217C= MANE Select	NP_001164100.1:p.Leu2073=
NM_020920.4:c.5380C=	NP_065971.2:p.Leu1794=