Canonical Allele Identifier: CA70049399
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 428807
dbSNP Id: rs5030830
COSMIC: COSM14312

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146526T>C , CM000665.2:g.10146526T>C GRCh38
NC_000003.11:g.10188210T>C , CM000665.1:g.10188210T>C GRCh37
NC_000003.10:g.10163210T>C NCBI36
NG_008212.3:g.9892T>C , LRG_322:g.9892T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*30T>C ENSP00000512434.1:n.*30T>C
ENST00000696143.1:c.600-3261T>C ENSP00000512435.1:n.600-3261T>C
ENST00000696153.1:c.353T>C ENSP00000512444.1:p.Leu118Pro
ENST00000256474.3:c.353T>C MANE Select ENSP00000256474.3:p.Leu118Pro
ENST00000256474.2:c.353T>C ENSP00000256474.2:p.Leu118Pro
ENST00000345392.2:c.341-3261T>C ENSP00000344757.2:n.341-3261T>C
ENST00000477538.1:n.489T>C
NM_000551.3:c.353T>C , LRG_322t1:c.353T>C NP_000542.1:p.Leu118Pro
NM_198156.2:c.341-3261T>C NP_937799.1:n.341-3261T>C
XM_011534078.1:c.*30T>C XP_011532380.1:n.*30T>C
NM_001354723.1:c.*18-3261T>C NP_001341652.1:n.*18-3261T>C
NM_000551.4:c.353T>C MANE Select NP_000542.1:p.Leu118Pro
NM_001354723.2:c.*18-3261T>C NP_001341652.1:n.*18-3261T>C
NM_198156.3:c.341-3261T>C NP_937799.1:n.341-3261T>C