Canonical Allele Identifier: CA70052558
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 428794
ClinVar RCV Id: RCV000492237 RCV001030024
dbSNP Id: rs5030825
COSMIC: COSM14359
MyVariant Identifiers: chr3:g.10191590C>T (hg19) chr3:g.10149906C>T (hg38)
CIViC: CA70052558
PCER: P-CER:CA70052558/193300
PubMed: PMID:7987306 PMID:12000816 PMID:17661816 PMID:23298237
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149906C>T , CM000665.2:g.10149906C>T GRCh38
NC_000003.11:g.10191590C>T , CM000665.1:g.10191590C>T GRCh37
NC_000003.10:g.10166590C>T NCBI36
NG_008212.3:g.13272C>T , LRG_322:g.13272C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*260C>T ENSP00000512434.1:n.*260C>T
ENST00000696143.1:c.719C>T ENSP00000512435.1:n.719C>T
ENST00000696153.1:c.694C>T ENSP00000512444.1:p.Gln232Ter
ENST00000256474.3:c.583C>T MANE Select ENSP00000256474.3:p.Gln195Ter
ENST00000256474.2:c.583C>T ENSP00000256474.2:p.Gln195Ter
ENST00000345392.2:c.460C>T ENSP00000344757.2:p.Gln154Ter
ENST00000477538.1:n.719C>T
NM_000551.3:c.583C>T , LRG_322t1:c.583C>T NP_000542.1:p.Gln195Ter
NM_198156.2:c.460C>T NP_937799.1:p.Gln154Ter
NM_001354723.1:c.*137C>T NP_001341652.1:n.*137C>T
NM_000551.4:c.583C>T MANE Select NP_000542.1:p.Gln195Ter
NM_001354723.2:c.*137C>T NP_001341652.1:n.*137C>T
NM_198156.3:c.460C>T NP_937799.1:p.Gln154Ter
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