Canonical Allele Identifier: CA020418
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 43604
dbSNP Id: rs397516444
COSMIC: COSM25676
CIViC: CA020418

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149808G>T , CM000665.2:g.10149808G>T GRCh38
NC_000003.11:g.10191492G>T , CM000665.1:g.10191492G>T GRCh37
NC_000003.10:g.10166492G>T NCBI36
NG_008212.3:g.13174G>T , LRG_322:g.13174G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*162G>T ENSP00000512434.1:n.*162G>T
ENST00000696143.1:c.621G>T ENSP00000512435.1:n.621G>T
ENST00000696153.1:c.596G>T ENSP00000512444.1:p.Cys199Phe
ENST00000256474.3:c.485G>T MANE Select ENSP00000256474.3:p.Cys162Phe
ENST00000256474.2:c.485G>T ENSP00000256474.2:p.Cys162Phe
ENST00000345392.2:c.362G>T ENSP00000344757.2:p.Cys121Phe
ENST00000477538.1:n.621G>T
NM_000551.3:c.485G>T , LRG_322t1:c.485G>T NP_000542.1:p.Cys162Phe
NM_198156.2:c.362G>T NP_937799.1:p.Cys121Phe
NM_001354723.1:c.*39G>T NP_001341652.1:n.*39G>T
NM_000551.4:c.485G>T MANE Select NP_000542.1:p.Cys162Phe
NM_001354723.2:c.*39G>T NP_001341652.1:n.*39G>T
NM_198156.3:c.362G>T NP_937799.1:p.Cys121Phe