Canonical Allele Identifier: CA020436
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2224
ClinVar RCV Id: RCV000002310 RCV000220823
dbSNP Id: rs104893825
COSMIC: COSM17982
MyVariant Identifiers: chr3:g.10191503G>T (hg19) chr3:g.10149819G>T (hg38)
CIViC: CA020436
PCER: P-CER:CA020436/193300
PubMed: PMID:8550742 PMID:8730290 PMID:8956040 PMID:10587522 PMID:12202531 PMID:18209888 PMID:19336503 PMID:20151405
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149819G>T , CM000665.2:g.10149819G>T GRCh38
NC_000003.11:g.10191503G>T , CM000665.1:g.10191503G>T GRCh37
NC_000003.10:g.10166503G>T NCBI36
NG_008212.3:g.13185G>T , LRG_322:g.13185G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*173G>T ENSP00000512434.1:n.*173G>T
ENST00000696143.1:c.632G>T ENSP00000512435.1:n.632G>T
ENST00000696153.1:c.607G>T ENSP00000512444.1:p.Val203Phe
ENST00000256474.3:c.496G>T MANE Select ENSP00000256474.3:p.Val166Phe
ENST00000256474.2:c.496G>T ENSP00000256474.2:p.Val166Phe
ENST00000345392.2:c.373G>T ENSP00000344757.2:p.Val125Phe
ENST00000477538.1:n.632G>T
NM_000551.3:c.496G>T , LRG_322t1:c.496G>T NP_000542.1:p.Val166Phe
NM_198156.2:c.373G>T NP_937799.1:p.Val125Phe
NM_001354723.1:c.*50G>T NP_001341652.1:n.*50G>T
NM_000551.4:c.496G>T MANE Select NP_000542.1:p.Val166Phe
NM_001354723.2:c.*50G>T NP_001341652.1:n.*50G>T
NM_198156.3:c.373G>T NP_937799.1:p.Val125Phe
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