Canonical Allele Identifier: CA388903204

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1712053
• ClinVar RCV Id: RCV002293771
• dbSNP Id: rs1594347720
• MyVariant Identifiers: chr14:g.21873903C>T (hg19) ; chr14:g.21405744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405744C>T , CM000676.2:g.21405744C>T	GRCh38
NC_000014.8:g.21873903C>T , CM000676.1:g.21873903C>T	GRCh37
NC_000014.7:g.20943743C>T	NCBI36
NG_021249.1:g.36555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2191G>A	ENSP00000406288.3:p.Gly731Arg
ENST00000555935.2:c.704G>A
ENST00000555962.6:c.-110-2702G>A	ENSP00000495174.1:n.-110-2702G>A
ENST00000557364.6:c.3028G>A	ENSP00000451601.1:p.Gly1010Arg
ENST00000643469.1:c.3028G>A	ENSP00000495070.1:p.Gly1010Arg
ENST00000645140.1:c.2940G>A
ENST00000645206.1:n.1542G>A
ENST00000645929.1:c.2191G>A	ENSP00000494402.1:p.Gly731Arg
ENST00000646340.1:c.3034G>A	ENSP00000496730.1:p.Gly1012Arg
ENST00000646647.2:c.3028G>A MANE Select	ENSP00000495240.1:p.Gly1010Arg
ENST00000399982.6:c.3028G>A	ENSP00000382863.2:p.Gly1010Arg
ENST00000430710.7:c.2191G>A	ENSP00000406288.3:p.Gly731Arg
ENST00000555935.1:c.704G>A
ENST00000555962.5:n.151-2702G>A
ENST00000557364.5:c.3028G>A	ENSP00000451601.1:p.Gly1010Arg
NM_001170629.1:c.3028G>A	NP_001164100.1:p.Gly1010Arg
NM_020920.3:c.2191G>A	NP_065971.2:p.Gly731Arg
NM_001170629.2:c.3028G>A MANE Select	NP_001164100.1:p.Gly1010Arg
NM_020920.4:c.2191G>A	NP_065971.2:p.Gly731Arg