Canonical Allele Identifier: CA020413
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182983
ClinVar RCV Id: RCV000161092 RCV000208848 RCV000456958 RCV000563066
dbSNP Id: rs730882035
gnomAD v4: 3-10149805-G-A
COSMIC: COSM18097
MyVariant Identifiers: chr3:g.10191489G>A (hg19) chr3:g.10149805G>A (hg38)
PCER: P-CER:CA020413/193300
PubMed: PMID:7728151 PMID:9215674 PMID:12000816 PMID:20120764 PMID:23842656 PMID:24466223 PMID:24707167 PMID:25371412 PMID:27527340
CIViC: CA020413
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149805G>A , CM000665.2:g.10149805G>A GRCh38
NC_000003.11:g.10191489G>A , CM000665.1:g.10191489G>A GRCh37
NC_000003.10:g.10166489G>A NCBI36
NG_008212.3:g.13171G>A , LRG_322:g.13171G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*159G>A ENSP00000512434.1:n.*159G>A
ENST00000696143.1:c.618G>A ENSP00000512435.1:n.618G>A
ENST00000696153.1:c.593G>A ENSP00000512444.1:p.Arg198Gln
ENST00000256474.3:c.482G>A MANE Select ENSP00000256474.3:p.Arg161Gln
ENST00000256474.2:c.482G>A ENSP00000256474.2:p.Arg161Gln
ENST00000345392.2:c.359G>A ENSP00000344757.2:p.Arg120Gln
ENST00000477538.1:n.618G>A
NM_000551.3:c.482G>A , LRG_322t1:c.482G>A NP_000542.1:p.Arg161Gln
NM_198156.2:c.359G>A NP_937799.1:p.Arg120Gln
NM_001354723.1:c.*36G>A NP_001341652.1:n.*36G>A
NM_000551.4:c.482G>A MANE Select NP_000542.1:p.Arg161Gln
NM_001354723.2:c.*36G>A NP_001341652.1:n.*36G>A
NM_198156.3:c.359G>A NP_937799.1:p.Arg120Gln
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