Canonical Allele Identifier: CA020510
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2232
dbSNP Id: rs28940298
COSMIC: COSM18024

User contributed link-outs

CIViC: CA020510

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149921C>T , CM000665.2:g.10149921C>T GRCh38
NC_000003.11:g.10191605C>T , CM000665.1:g.10191605C>T GRCh37
NC_000003.10:g.10166605C>T NCBI36
NG_008212.3:g.13287C>T , LRG_322:g.13287C>T

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.598C>T , LRG_322t1:c.598C>T NP_000542.1:p.Arg200Trp
NM_198156.2:c.475C>T VV NP_937799.1:p.Arg159Trp
NM_001354723.1:c.*152C>T VV NP_001341652.1:p.=
ENST00000256474.2:c.598C>T ENSP00000256474.2:p.Arg200Trp
ENST00000345392.2:c.475C>T ENSP00000344757.2:p.Arg159Trp
ENST00000477538.1:n.734C>T