Canonical Allele Identifier: CA020230
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2237
dbSNP Id: rs5030808
gnomAD v4: 3-10142124-G-A
COSMIC: COSM14292
CIViC: CA020230

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142124G>A , CM000665.2:g.10142124G>A GRCh38
NC_000003.11:g.10183808G>A , CM000665.1:g.10183808G>A GRCh37
NC_000003.10:g.10158808G>A NCBI36
NG_008212.3:g.5490G>A , LRG_322:g.5490G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.277G>A ENSP00000512434.1:p.Gly93Ser
ENST00000696143.1:c.277G>A ENSP00000512435.1:p.Gly93Ser
ENST00000696153.1:c.277G>A ENSP00000512444.1:p.Gly93Ser
ENST00000256474.3:c.277G>A MANE Select ENSP00000256474.3:p.Gly93Ser
ENST00000256474.2:c.277G>A ENSP00000256474.2:p.Gly93Ser
ENST00000345392.2:c.277G>A ENSP00000344757.2:p.Gly93Ser
NM_000551.3:c.277G>A , LRG_322t1:c.277G>A NP_000542.1:p.Gly93Ser
NM_198156.2:c.277G>A NP_937799.1:p.Gly93Ser
XM_011534078.1:c.277G>A XP_011532380.1:p.Gly93Ser
NM_001354723.1:c.277G>A NP_001341652.1:p.Gly93Ser
NM_000551.4:c.277G>A MANE Select NP_000542.1:p.Gly93Ser
NM_001354723.2:c.277G>A NP_001341652.1:p.Gly93Ser
NM_198156.3:c.277G>A NP_937799.1:p.Gly93Ser