Canonical Allele Identifier: CA388884037

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1958787
• ClinVar RCV Id: RCV002725640
• MyVariant Identifiers: chr14:g.21863149T>A (hg19) ; chr14:g.21394990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21394990T>A , CM000676.2:g.21394990T>A	GRCh38
NC_000014.8:g.21863149T>A , CM000676.1:g.21863149T>A	GRCh37
NC_000014.7:g.20932989T>A	NCBI36
NG_021249.1:g.47309A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4475A>T	ENSP00000406288.3:p.Glu1492Val
ENST00000555935.2:c.3012A>T
ENST00000555962.6:c.*697A>T	ENSP00000495174.1:n.*697A>T
ENST00000557364.6:c.5312A>T	ENSP00000451601.1:p.Glu1771Val
ENST00000643469.1:c.5312A>T	ENSP00000495070.1:p.Glu1771Val
ENST00000645206.1:n.4468A>T
ENST00000645929.1:c.4475A>T	ENSP00000494402.1:p.Glu1492Val
ENST00000646340.1:c.5318A>T	ENSP00000496730.1:p.Glu1773Val
ENST00000646647.2:c.5312A>T MANE Select	ENSP00000495240.1:p.Glu1771Val
ENST00000399982.6:c.5312A>T	ENSP00000382863.2:p.Glu1771Val
ENST00000430710.7:c.4475A>T	ENSP00000406288.3:p.Glu1492Val
ENST00000555301.1:n.25A>T
ENST00000557364.5:c.5312A>T	ENSP00000451601.1:p.Glu1771Val
NM_001170629.1:c.5312A>T	NP_001164100.1:p.Glu1771Val
NM_020920.3:c.4475A>T	NP_065971.2:p.Glu1492Val
NM_001170629.2:c.5312A>T MANE Select	NP_001164100.1:p.Glu1771Val
NM_020920.4:c.4475A>T	NP_065971.2:p.Glu1492Val