Canonical Allele Identifier: CA020408
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2217
ClinVar RCV Id: RCV000002301 RCV000161091 RCV000437445 RCV000492225 RCV000791367
dbSNP Id: rs5030818
COSMIC: COSM17612
MyVariant Identifiers: chr3:g.10191488C>T (hg19) chr3:g.10149804C>T (hg38)
PubMed: PMID:7784063 PMID:7987327 PMID:8522307 PMID:8730290 PMID:8956040 PMID:9452032 PMID:12114495 PMID:14722919 PMID:15300849 PMID:19270817 PMID:21362373 PMID:24301059 PMID:25157968 PMID:25720320 PMID:27527340 PMID:27617348
CIViC: CA020408
PCER: P-CER:CA020408/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149804C>T , CM000665.2:g.10149804C>T GRCh38
NC_000003.11:g.10191488C>T , CM000665.1:g.10191488C>T GRCh37
NC_000003.10:g.10166488C>T NCBI36
NG_008212.3:g.13170C>T , LRG_322:g.13170C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*158C>T ENSP00000512434.1:n.*158C>T
ENST00000696143.1:c.617C>T ENSP00000512435.1:n.617C>T
ENST00000696153.1:c.592C>T ENSP00000512444.1:p.Arg198Ter
ENST00000256474.3:c.481C>T MANE Select ENSP00000256474.3:p.Arg161Ter
ENST00000256474.2:c.481C>T ENSP00000256474.2:p.Arg161Ter
ENST00000345392.2:c.358C>T ENSP00000344757.2:p.Arg120Ter
ENST00000477538.1:n.617C>T
NM_000551.3:c.481C>T , LRG_322t1:c.481C>T NP_000542.1:p.Arg161Ter
NM_198156.2:c.358C>T NP_937799.1:p.Arg120Ter
NM_001354723.1:c.*35C>T NP_001341652.1:n.*35C>T
NM_000551.4:c.481C>T MANE Select NP_000542.1:p.Arg161Ter
NM_001354723.2:c.*35C>T NP_001341652.1:n.*35C>T
NM_198156.3:c.358C>T NP_937799.1:p.Arg120Ter
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