Canonical Allele Identifier: CA020394
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 43600
ClinVar RCV Id: RCV000036543 RCV000487045 RCV000492752 RCV000631280
dbSNP Id: rs397516441
MyVariant Identifiers: chr3:g.10191474A>G (hg19) chr3:g.10149790A>G (hg38)
CIViC: CA020394
PCER: P-CER:CA020394/193300
PubMed: PMID:9829912 PMID:12000816 PMID:12202531 PMID:12807974 PMID:14500403 PMID:15300849 PMID:16314641 PMID:19029228 PMID:19336503 PMID:19574279 PMID:19763184 PMID:19958924 PMID:20151405 PMID:20660572 PMID:24132471
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149790A>G , CM000665.2:g.10149790A>G GRCh38
NC_000003.11:g.10191474A>G , CM000665.1:g.10191474A>G GRCh37
NC_000003.10:g.10166474A>G NCBI36
NG_008212.3:g.13156A>G , LRG_322:g.13156A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*144A>G ENSP00000512434.1:n.*144A>G
ENST00000696143.1:c.603A>G ENSP00000512435.1:n.603A>G
ENST00000696153.1:c.578A>G ENSP00000512444.1:p.Tyr193Cys
ENST00000256474.3:c.467A>G MANE Select ENSP00000256474.3:p.Tyr156Cys
ENST00000256474.2:c.467A>G ENSP00000256474.2:p.Tyr156Cys
ENST00000345392.2:c.344A>G ENSP00000344757.2:p.Tyr115Cys
ENST00000477538.1:n.603A>G
NM_000551.3:c.467A>G , LRG_322t1:c.467A>G NP_000542.1:p.Tyr156Cys
NM_198156.2:c.344A>G NP_937799.1:p.Tyr115Cys
NM_001354723.1:c.*21A>G NP_001341652.1:n.*21A>G
NM_000551.4:c.467A>G MANE Select NP_000542.1:p.Tyr156Cys
NM_001354723.2:c.*21A>G NP_001341652.1:n.*21A>G
NM_198156.3:c.344A>G NP_937799.1:p.Tyr115Cys
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