Canonical Allele Identifier: CA388883965

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1308739
• ClinVar RCV Id: RCV001754627
• dbSNP Id: rs751773278
• gnomAD v2: 14-21863113-G-C
• gnomAD v4: 14-21394954-G-C
• MyVariant Identifiers: chr14:g.21863113G>C (hg19) ; chr14:g.21394954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21394954G>C , CM000676.2:g.21394954G>C	GRCh38
NC_000014.8:g.21863113G>C , CM000676.1:g.21863113G>C	GRCh37
NC_000014.7:g.20932953G>C	NCBI36
NG_021249.1:g.47345C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.4511C>G	ENSP00000406288.3:p.Ala1504Gly
ENST00000555935.2:c.3048C>G
ENST00000555962.6:c.*733C>G	ENSP00000495174.1:n.*733C>G
ENST00000557364.6:c.5348C>G	ENSP00000451601.1:p.Ala1783Gly
ENST00000643469.1:c.5348C>G	ENSP00000495070.1:p.Ala1783Gly
ENST00000645206.1:n.4504C>G
ENST00000645929.1:c.4511C>G	ENSP00000494402.1:p.Ala1504Gly
ENST00000646340.1:c.5354C>G	ENSP00000496730.1:p.Ala1785Gly
ENST00000646647.2:c.5348C>G MANE Select	ENSP00000495240.1:p.Ala1783Gly
ENST00000399982.6:c.5348C>G	ENSP00000382863.2:p.Ala1783Gly
ENST00000430710.7:c.4511C>G	ENSP00000406288.3:p.Ala1504Gly
ENST00000555301.1:n.61C>G
ENST00000557364.5:c.5348C>G	ENSP00000451601.1:p.Ala1783Gly
NM_001170629.1:c.5348C>G	NP_001164100.1:p.Ala1783Gly
NM_020920.3:c.4511C>G	NP_065971.2:p.Ala1504Gly
NM_001170629.2:c.5348C>G MANE Select	NP_001164100.1:p.Ala1783Gly
NM_020920.4:c.4511C>G	NP_065971.2:p.Ala1504Gly