Canonical Allele Identifier: CA210029

Gene: DHTKD1

Linked Data

• ClinVar Variation Id: 216917
• ClinVar RCV Id: RCV000198805 ; RCV000579104 ; RCV002515470 ; RCV003883140
• dbSNP Id: rs770649540
• gnomAD v2: 10-12160845-C-T
• gnomAD v3: 10-12118846-C-T
• gnomAD v4: 10-12118846-C-T
• COSMIC: COSM244025
• MyVariant Identifiers: chr10:g.12160845C>T (hg19) ; chr10:g.12118846C>T (hg38)
• PubMed: PMID:25326637

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