Canonical Allele Identifier: CA020462
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 36905
ClinVar RCV Id: RCV000030589 RCV000492408 RCV000533687
dbSNP Id: rs193922613
gnomAD v3: 3-10149847-A-G
gnomAD v4: 3-10149847-A-G
MyVariant Identifiers: chr3:g.10191531A>G (hg19) chr3:g.10149847A>G (hg38)
PubMed: PMID:14722919 PMID:16210343 PMID:16969113 PMID:23660872 PMID:23859443 PMID:24969085 PMID:25371412
PCER: P-CER:CA020462/193300
CIViC: CA020462
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149847A>G , CM000665.2:g.10149847A>G GRCh38
NC_000003.11:g.10191531A>G , CM000665.1:g.10191531A>G GRCh37
NC_000003.10:g.10166531A>G NCBI36
NG_008212.3:g.13213A>G , LRG_322:g.13213A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*201A>G ENSP00000512434.1:n.*201A>G
ENST00000696143.1:c.660A>G ENSP00000512435.1:n.660A>G
ENST00000696153.1:c.635A>G ENSP00000512444.1:p.Tyr212Cys
ENST00000256474.3:c.524A>G MANE Select ENSP00000256474.3:p.Tyr175Cys
ENST00000256474.2:c.524A>G ENSP00000256474.2:p.Tyr175Cys
ENST00000345392.2:c.401A>G ENSP00000344757.2:p.Tyr134Cys
ENST00000477538.1:n.660A>G
NM_000551.3:c.524A>G , LRG_322t1:c.524A>G NP_000542.1:p.Tyr175Cys
NM_198156.2:c.401A>G NP_937799.1:p.Tyr134Cys
NM_001354723.1:c.*78A>G NP_001341652.1:n.*78A>G
NM_000551.4:c.524A>G MANE Select NP_000542.1:p.Tyr175Cys
NM_001354723.2:c.*78A>G NP_001341652.1:n.*78A>G
NM_198156.3:c.401A>G NP_937799.1:p.Tyr134Cys
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