Canonical Allele Identifier: CA020473
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2215
ClinVar RCV Id: RCV003162205
dbSNP Id: rs5030823
COSMIC: COSM14380
MyVariant Identifiers: chr3:g.10191555C>A (hg19) chr3:g.10149871C>A (hg38)
PubMed: PMID:7784063
PCER: P-CER:CA020473/193300
CIViC: CA020473
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149871C>A , CM000665.2:g.10149871C>A GRCh38
NC_000003.11:g.10191555C>A , CM000665.1:g.10191555C>A GRCh37
NC_000003.10:g.10166555C>A NCBI36
NG_008212.3:g.13237C>A , LRG_322:g.13237C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*225C>A ENSP00000512434.1:n.*225C>A
ENST00000696143.1:c.684C>A ENSP00000512435.1:n.684C>A
ENST00000696153.1:c.659C>A ENSP00000512444.1:p.Ser220Ter
ENST00000256474.3:c.548C>A MANE Select ENSP00000256474.3:p.Ser183Ter
ENST00000256474.2:c.548C>A ENSP00000256474.2:p.Ser183Ter
ENST00000345392.2:c.425C>A ENSP00000344757.2:p.Ser142Ter
ENST00000477538.1:n.684C>A
NM_000551.3:c.548C>A , LRG_322t1:c.548C>A NP_000542.1:p.Ser183Ter
NM_198156.2:c.425C>A NP_937799.1:p.Ser142Ter
NM_001354723.1:c.*102C>A NP_001341652.1:n.*102C>A
NM_000551.4:c.548C>A MANE Select NP_000542.1:p.Ser183Ter
NM_001354723.2:c.*102C>A NP_001341652.1:n.*102C>A
NM_198156.3:c.425C>A NP_937799.1:p.Ser142Ter
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