Canonical Allele Identifier: CA388879116

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2258787
• ClinVar RCV Id: RCV002772973
• gnomAD v4: 14-21415590-C-T
• COSMIC: COSM954448 ; COSM4865633
• MyVariant Identifiers: chr14:g.21883749C>T (hg19) ; chr14:g.21415590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415590C>T , CM000676.2:g.21415590C>T	GRCh38
NC_000014.8:g.21883749C>T , CM000676.1:g.21883749C>T	GRCh37
NC_000014.7:g.20953589C>T	NCBI36
NG_021249.1:g.26709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1115G>A	ENSP00000406288.3:p.Arg372Gln
ENST00000555962.6:c.-110-12548G>A	ENSP00000495174.1:n.-110-12548G>A
ENST00000557364.6:c.1952G>A	ENSP00000451601.1:p.Arg651Gln
ENST00000642914.1:n.935G>A
ENST00000643469.1:c.1952G>A	ENSP00000495070.1:p.Arg651Gln
ENST00000645140.1:c.1864G>A
ENST00000645206.1:n.466G>A
ENST00000645929.1:c.1115G>A	ENSP00000494402.1:p.Arg372Gln
ENST00000646340.1:c.1958G>A	ENSP00000496730.1:p.Arg653Gln
ENST00000646647.2:c.1952G>A MANE Select	ENSP00000495240.1:p.Arg651Gln
ENST00000399982.6:c.1952G>A	ENSP00000382863.2:p.Arg651Gln
ENST00000430710.7:c.1115G>A	ENSP00000406288.3:p.Arg372Gln
ENST00000555962.5:n.151-12548G>A
ENST00000557364.5:c.1952G>A	ENSP00000451601.1:p.Arg651Gln
NM_001170629.1:c.1952G>A	NP_001164100.1:p.Arg651Gln
NM_020920.3:c.1115G>A	NP_065971.2:p.Arg372Gln
NM_001170629.2:c.1952G>A MANE Select	NP_001164100.1:p.Arg651Gln
NM_020920.4:c.1115G>A	NP_065971.2:p.Arg372Gln