Canonical Allele Identifier: CA388879203

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1679265
• ClinVar RCV Id: RCV002226862
• dbSNP Id: rs2139499311
• MyVariant Identifiers: chr14:g.21883770A>G (hg19) ; chr14:g.21415611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415611A>G , CM000676.2:g.21415611A>G	GRCh38
NC_000014.8:g.21883770A>G , CM000676.1:g.21883770A>G	GRCh37
NC_000014.7:g.20953610A>G	NCBI36
NG_021249.1:g.26688T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1094T>C	ENSP00000406288.3:p.Val365Ala
ENST00000555962.6:c.-110-12569T>C	ENSP00000495174.1:n.-110-12569T>C
ENST00000557364.6:c.1931T>C	ENSP00000451601.1:p.Val644Ala
ENST00000642914.1:n.914T>C
ENST00000643469.1:c.1931T>C	ENSP00000495070.1:p.Val644Ala
ENST00000645140.1:c.1843T>C
ENST00000645206.1:n.445T>C
ENST00000645929.1:c.1094T>C	ENSP00000494402.1:p.Val365Ala
ENST00000646340.1:c.1937T>C	ENSP00000496730.1:p.Val646Ala
ENST00000646647.2:c.1931T>C MANE Select	ENSP00000495240.1:p.Val644Ala
ENST00000399982.6:c.1931T>C	ENSP00000382863.2:p.Val644Ala
ENST00000430710.7:c.1094T>C	ENSP00000406288.3:p.Val365Ala
ENST00000555962.5:n.151-12569T>C
ENST00000557364.5:c.1931T>C	ENSP00000451601.1:p.Val644Ala
NM_001170629.1:c.1931T>C	NP_001164100.1:p.Val644Ala
NM_020920.3:c.1094T>C	NP_065971.2:p.Val365Ala
NM_001170629.2:c.1931T>C MANE Select	NP_001164100.1:p.Val644Ala
NM_020920.4:c.1094T>C	NP_065971.2:p.Val365Ala