Canonical Allele Identifier: CA243736
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 196670
dbSNP Id: rs145300090

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21393710C>T , CM000676.2:g.21393710C>T GRCh38
NC_000014.8:g.21861869C>T , CM000676.1:g.21861869C>T GRCh37
NC_000014.7:g.20931709C>T NCBI36
NG_021249.1:g.48589G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.5248G>A ENSP00000406288.3:p.Glu1750Lys
ENST00000555935.2:n.3785G>A
ENST00000557364.6:c.6085G>A ENSP00000451601.1:p.Glu2029Lys
ENST00000643469.1:c.6085G>A ENSP00000495070.1:p.Glu2029Lys
ENST00000645206.1:n.5241G>A
ENST00000645929.1:c.5248G>A ENSP00000494402.1:p.Glu1750Lys
ENST00000646647.2:c.6085G>A MANE Select ENSP00000495240.1:p.Glu2029Lys
ENST00000399982.6:c.6085G>A ENSP00000382863.2:p.Glu2029Lys
ENST00000430710.7:c.5248G>A ENSP00000406288.3:p.Glu1750Lys
ENST00000555301.1:n.879G>A
ENST00000557364.5:c.6085G>A ENSP00000451601.1:p.Glu2029Lys
NM_001170629.1:c.6085G>A NP_001164100.1:p.Glu2029Lys
NM_020920.3:c.5248G>A NP_065971.2:p.Glu1750Lys
NM_001170629.2:c.6085G>A MANE Select NP_001164100.1:p.Glu2029Lys
NM_020920.4:c.5248G>A NP_065971.2:p.Glu1750Lys