Canonical Allele Identifier: CA257593060
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs866892774

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21393638G>C , CM000676.2:g.21393638G>C GRCh38
NC_000014.8:g.21861797G>C , CM000676.1:g.21861797G>C GRCh37
NC_000014.7:g.20931637G>C NCBI36
NG_021249.1:g.48661C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.5320C>G ENSP00000406288.3:p.Leu1774Val
ENST00000555935.2:c.3857C>G
ENST00000557364.6:c.6157C>G ENSP00000451601.1:p.Leu2053Val
ENST00000643469.1:c.6157C>G ENSP00000495070.1:p.Leu2053Val
ENST00000645206.1:n.5313C>G
ENST00000645929.1:c.5320C>G ENSP00000494402.1:p.Leu1774Val
ENST00000646647.2:c.6157C>G MANE Select ENSP00000495240.1:p.Leu2053Val
ENST00000399982.6:c.6157C>G ENSP00000382863.2:p.Leu2053Val
ENST00000430710.7:c.5320C>G ENSP00000406288.3:p.Leu1774Val
ENST00000557364.5:c.6157C>G ENSP00000451601.1:p.Leu2053Val
NM_001170629.1:c.6157C>G NP_001164100.1:p.Leu2053Val
NM_020920.3:c.5320C>G NP_065971.2:p.Leu1774Val
NM_001170629.2:c.6157C>G MANE Select NP_001164100.1:p.Leu2053Val
NM_020920.4:c.5320C>G NP_065971.2:p.Leu1774Val