Canonical Allele Identifier: CA020056
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 161402
dbSNP Id: rs373068386
gnomAD v2: 3-10183685-G-A
gnomAD v3: 3-10142001-G-A
gnomAD v4: 3-10142001-G-A
CIViC: CA020056

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142001G>A , CM000665.2:g.10142001G>A GRCh38
NC_000003.11:g.10183685G>A , CM000665.1:g.10183685G>A GRCh37
NC_000003.10:g.10158685G>A NCBI36
NG_008212.3:g.5367G>A , LRG_322:g.5367G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.154G>A ENSP00000512434.1:p.Glu52Lys
ENST00000696143.1:c.154G>A ENSP00000512435.1:p.Glu52Lys
ENST00000696153.1:c.154G>A ENSP00000512444.1:p.Glu52Lys
ENST00000256474.3:c.154G>A MANE Select ENSP00000256474.3:p.Glu52Lys
ENST00000256474.2:c.154G>A ENSP00000256474.2:p.Glu52Lys
ENST00000345392.2:c.154G>A ENSP00000344757.2:p.Glu52Lys
NM_000551.3:c.154G>A , LRG_322t1:c.154G>A NP_000542.1:p.Glu52Lys
NM_198156.2:c.154G>A NP_937799.1:p.Glu52Lys
XM_011534078.1:c.154G>A XP_011532380.1:p.Glu52Lys
NM_001354723.1:c.154G>A NP_001341652.1:p.Glu52Lys
NM_000551.4:c.154G>A MANE Select NP_000542.1:p.Glu52Lys
NM_001354723.2:c.154G>A NP_001341652.1:p.Glu52Lys
NM_198156.3:c.154G>A NP_937799.1:p.Glu52Lys