Canonical Allele Identifier: CA2122496588

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21402055C= , CM000676.2:g.21402055C=	GRCh38
NC_000014.8:g.21870214C= , CM000676.1:g.21870214C=	GRCh37
NC_000014.7:g.20940054C=	NCBI36
NG_021249.1:g.40244G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001170629.2:c.3964G= MANE Select	NP_001164100.1:p.Gly1322=
ENST00000646647.2:c.3964G= MANE Select	ENSP00000495240.1:p.Gly1322=
NM_001170629.1:c.3964G=	NP_001164100.1:p.Gly1322=
NM_020920.3:c.3127G=	NP_065971.2:p.Gly1043=
NM_020920.4:c.3127G=	NP_065971.2:p.Gly1043=
ENST00000399982.6:c.3964G=	ENSP00000382863.2:p.Gly1322=
ENST00000430710.7:c.3127G=	ENSP00000406288.3:p.Gly1043=
ENST00000430710.8:c.3127G=	ENSP00000406288.3:p.Gly1043=
ENST00000555935.1:c.1640G=
ENST00000555935.2:c.1640G=
ENST00000555962.5:n.426G=
ENST00000555962.6:c.166G=	ENSP00000495174.1:p.Gly56=
ENST00000557364.5:c.3964G=	ENSP00000451601.1:p.Gly1322=
ENST00000557364.6:c.3964G=	ENSP00000451601.1:p.Gly1322=
ENST00000643469.1:c.3964G=	ENSP00000495070.1:p.Gly1322=
ENST00000645206.1:n.2478G=
ENST00000645929.1:c.3127G=	ENSP00000494402.1:p.Gly1043=
ENST00000646340.1:c.3970G=	ENSP00000496730.1:p.Gly1324=
ENST00000646558.1:n.75G=