Canonical Allele Identifier: CA485000123

Gene: CHD8

Linked Data

• MyVariant Identifiers: chr14:g.21863124A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21394965A>T , CM000676.2:g.21394965A>T	GRCh38
NC_000014.8:g.21863124A>T , CM000676.1:g.21863124A>T	GRCh37
NC_000014.7:g.20932964A>T	NCBI36
NG_021249.1:g.47334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4500T>A	ENSP00000406288.3:p.Arg1500=
ENST00000555935.2:c.3037T>A
ENST00000555962.6:c.*722T>A	ENSP00000495174.1:n.*722T>A
ENST00000557364.6:c.5337T>A	ENSP00000451601.1:p.Arg1779=
ENST00000643469.1:c.5337T>A	ENSP00000495070.1:p.Arg1779=
ENST00000645206.1:n.4493T>A
ENST00000645929.1:c.4500T>A	ENSP00000494402.1:p.Arg1500=
ENST00000646340.1:c.5343T>A	ENSP00000496730.1:p.Arg1781=
ENST00000646647.2:c.5337T>A MANE Select	ENSP00000495240.1:p.Arg1779=
ENST00000399982.6:c.5337T>A	ENSP00000382863.2:p.Arg1779=
ENST00000430710.7:c.4500T>A	ENSP00000406288.3:p.Arg1500=
ENST00000555301.1:n.50T>A
ENST00000557364.5:c.5337T>A	ENSP00000451601.1:p.Arg1779=
NM_001170629.1:c.5337T>A	NP_001164100.1:p.Arg1779=
NM_020920.3:c.4500T>A	NP_065971.2:p.Arg1500=
NM_001170629.2:c.5337T>A MANE Select	NP_001164100.1:p.Arg1779=
NM_020920.4:c.4500T>A	NP_065971.2:p.Arg1500=