Canonical Allele Identifier: CA020466
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182974
ClinVar RCV Id: RCV000549585
dbSNP Id: rs5030835
COSMIC: COSM1169455
MyVariant Identifiers: chr3:g.10191532C>G (hg19) chr3:g.10149848C>G (hg38)
PubMed: PMID:7553625 PMID:8956040 PMID:11409863 PMID:12202531 PMID:15300849 PMID:18580449
PCER: P-CER:CA020466/193300
CIViC: CA020466
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149848C>G , CM000665.2:g.10149848C>G GRCh38
NC_000003.11:g.10191532C>G , CM000665.1:g.10191532C>G GRCh37
NC_000003.10:g.10166532C>G NCBI36
NG_008212.3:g.13214C>G , LRG_322:g.13214C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*202C>G ENSP00000512434.1:n.*202C>G
ENST00000696143.1:c.661C>G ENSP00000512435.1:n.661C>G
ENST00000696153.1:c.636C>G ENSP00000512444.1:p.Tyr212Ter
ENST00000256474.3:c.525C>G MANE Select ENSP00000256474.3:p.Tyr175Ter
ENST00000256474.2:c.525C>G ENSP00000256474.2:p.Tyr175Ter
ENST00000345392.2:c.402C>G ENSP00000344757.2:p.Tyr134Ter
ENST00000477538.1:n.661C>G
NM_000551.3:c.525C>G , LRG_322t1:c.525C>G NP_000542.1:p.Tyr175Ter
NM_198156.2:c.402C>G NP_937799.1:p.Tyr134Ter
NM_001354723.1:c.*79C>G NP_001341652.1:n.*79C>G
NM_000551.4:c.525C>G MANE Select NP_000542.1:p.Tyr175Ter
NM_001354723.2:c.*79C>G NP_001341652.1:n.*79C>G
NM_198156.3:c.402C>G NP_937799.1:p.Tyr134Ter
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