Canonical Allele Identifier: CA020325
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2229
ClinVar RCV Id: RCV001071915
dbSNP Id: rs104893830
COSMIC: COSM14407
MyVariant Identifiers: chr3:g.10188245G>C (hg19) chr3:g.10146561G>C (hg38)
PubMed: PMID:8956040 PMID:10570625 PMID:12202531 PMID:12393546 PMID:12844285 PMID:14722919 PMID:15300849 PMID:24581539
CIViC: CA020325
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146561G>C , CM000665.2:g.10146561G>C GRCh38
NC_000003.11:g.10188245G>C , CM000665.1:g.10188245G>C GRCh37
NC_000003.10:g.10163245G>C NCBI36
NG_008212.3:g.9927G>C , LRG_322:g.9927G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*65G>C ENSP00000512434.1:n.*65G>C
ENST00000696143.1:c.600-3226G>C ENSP00000512435.1:n.600-3226G>C
ENST00000696153.1:c.388G>C ENSP00000512444.1:p.Val130Leu
ENST00000256474.3:c.388G>C MANE Select ENSP00000256474.3:p.Val130Leu
ENST00000256474.2:c.388G>C ENSP00000256474.2:p.Val130Leu
ENST00000345392.2:c.341-3226G>C ENSP00000344757.2:n.341-3226G>C
ENST00000477538.1:n.524G>C
NM_000551.3:c.388G>C , LRG_322t1:c.388G>C NP_000542.1:p.Val130Leu
NM_198156.2:c.341-3226G>C NP_937799.1:n.341-3226G>C
XM_011534078.1:c.*65G>C XP_011532380.1:n.*65G>C
NM_001354723.1:c.*18-3226G>C NP_001341652.1:n.*18-3226G>C
NM_000551.4:c.388G>C MANE Select NP_000542.1:p.Val130Leu
NM_001354723.2:c.*18-3226G>C NP_001341652.1:n.*18-3226G>C
NM_198156.3:c.341-3226G>C NP_937799.1:n.341-3226G>C
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