Canonical Allele Identifier: CA020450
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2218
dbSNP Id: rs5030820
gnomAD v2: 3-10191506-C-T
gnomAD v3: 3-10149822-C-T
gnomAD v4: 3-10149822-C-T
COSMIC: COSM14311
CIViC: CA020450

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149822C>T , CM000665.2:g.10149822C>T GRCh38
NC_000003.11:g.10191506C>T , CM000665.1:g.10191506C>T GRCh37
NC_000003.10:g.10166506C>T NCBI36
NG_008212.3:g.13188C>T , LRG_322:g.13188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*176C>T ENSP00000512434.1:n.*176C>T
ENST00000696143.1:c.635C>T ENSP00000512435.1:n.635C>T
ENST00000696153.1:c.610C>T ENSP00000512444.1:p.Arg204Trp
ENST00000256474.3:c.499C>T MANE Select ENSP00000256474.3:p.Arg167Trp
ENST00000256474.2:c.499C>T ENSP00000256474.2:p.Arg167Trp
ENST00000345392.2:c.376C>T ENSP00000344757.2:p.Arg126Trp
ENST00000477538.1:n.635C>T
NM_000551.3:c.499C>T , LRG_322t1:c.499C>T NP_000542.1:p.Arg167Trp
NM_198156.2:c.376C>T NP_937799.1:p.Arg126Trp
NM_001354723.1:c.*53C>T NP_001341652.1:n.*53C>T
NM_000551.4:c.499C>T MANE Select NP_000542.1:p.Arg167Trp
NM_001354723.2:c.*53C>T NP_001341652.1:n.*53C>T
NM_198156.3:c.376C>T NP_937799.1:p.Arg126Trp