Canonical Allele Identifier: CA210029
Gene: DHTKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216917
dbSNP Id: rs770649540
COSMIC: COSM244025

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12118846C>T , CM000672.2:g.12118846C>T GRCh38
NC_000010.10:g.12160845C>T , CM000672.1:g.12160845C>T GRCh37
NC_000010.9:g.12200851C>T NCBI36
NG_033248.1:g.54930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263035.9:c.2500C>T MANE Select ENSP00000263035.4:p.Arg834Ter
ENST00000263035.8:c.2500C>T ENSP00000263035.4:p.Arg834Ter
ENST00000479283.1:n.68C>T
NM_018706.6:c.2500C>T NP_061176.3:p.Arg834Ter
NM_018706.7:c.2500C>T MANE Select NP_061176.4:p.Arg834Ter