Canonical Allele Identifier: CA257545849

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1329581
• ClinVar RCV Id: RCV001799889
• dbSNP Id: rs547587617
• gnomAD v2: 14-21875099-T-C
• gnomAD v4: 14-21406940-T-C
• COSMIC: COSM4980957 ; COSM4980958
• MyVariant Identifiers: chr14:g.21875099T>C (hg19) ; chr14:g.21406940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406940T>C , CM000676.2:g.21406940T>C	GRCh38
NC_000014.8:g.21875099T>C , CM000676.1:g.21875099T>C	GRCh37
NC_000014.7:g.20944939T>C	NCBI36
NG_021249.1:g.35359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1986A>G	ENSP00000406288.3:p.Glu662=
ENST00000555935.2:c.499A>G
ENST00000555962.6:c.-110-3898A>G	ENSP00000495174.1:n.-110-3898A>G
ENST00000557364.6:c.2823A>G	ENSP00000451601.1:p.Glu941=
ENST00000643469.1:c.2823A>G	ENSP00000495070.1:p.Glu941=
ENST00000645140.1:c.2735A>G
ENST00000645206.1:n.1337A>G
ENST00000645929.1:c.1986A>G	ENSP00000494402.1:p.Glu662=
ENST00000646340.1:c.2829A>G	ENSP00000496730.1:p.Glu943=
ENST00000646647.2:c.2823A>G MANE Select	ENSP00000495240.1:p.Glu941=
ENST00000399982.6:c.2823A>G	ENSP00000382863.2:p.Glu941=
ENST00000430710.7:c.1986A>G	ENSP00000406288.3:p.Glu662=
ENST00000555935.1:c.499A>G
ENST00000555962.5:n.151-3898A>G
ENST00000557364.5:c.2823A>G	ENSP00000451601.1:p.Glu941=
NM_001170629.1:c.2823A>G	NP_001164100.1:p.Glu941=
NM_020920.3:c.1986A>G	NP_065971.2:p.Glu662=
NM_001170629.2:c.2823A>G MANE Select	NP_001164100.1:p.Glu941=
NM_020920.4:c.1986A>G	NP_065971.2:p.Glu662=