Canonical Allele Identifier: CA243032
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 196164
dbSNP Id: rs766317271

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21394956T>C , CM000676.2:g.21394956T>C GRCh38
NC_000014.8:g.21863115T>C , CM000676.1:g.21863115T>C GRCh37
NC_000014.7:g.20932955T>C NCBI36
NG_021249.1:g.47343A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.4509A>G ENSP00000406288.3:p.Ala1503=
ENST00000555935.2:c.3046A>G
ENST00000555962.6:c.*731A>G ENSP00000495174.1:n.*731A>G
ENST00000557364.6:c.5346A>G ENSP00000451601.1:p.Ala1782=
ENST00000643469.1:c.5346A>G ENSP00000495070.1:p.Ala1782=
ENST00000645206.1:n.4502A>G
ENST00000645929.1:c.4509A>G ENSP00000494402.1:p.Ala1503=
ENST00000646340.1:c.5352A>G ENSP00000496730.1:p.Ala1784=
ENST00000646647.2:c.5346A>G MANE Select ENSP00000495240.1:p.Ala1782=
ENST00000399982.6:c.5346A>G ENSP00000382863.2:p.Ala1782=
ENST00000430710.7:c.4509A>G ENSP00000406288.3:p.Ala1503=
ENST00000555301.1:n.59A>G
ENST00000557364.5:c.5346A>G ENSP00000451601.1:p.Ala1782=
NM_001170629.1:c.5346A>G NP_001164100.1:p.Ala1782=
NM_020920.3:c.4509A>G NP_065971.2:p.Ala1503=
NM_001170629.2:c.5346A>G MANE Select NP_001164100.1:p.Ala1782=
NM_020920.4:c.4509A>G NP_065971.2:p.Ala1503=