Canonical Allele Identifier: CA351747133
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 3071712
ClinVar RCV Id: RCV004016206
dbSNP Id: rs1380706798
gnomAD v2: 3-10183566-A-T
gnomAD v4: 3-10141882-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141882A>T , CM000665.2:g.10141882A>T GRCh38
NC_000003.11:g.10183566A>T , CM000665.1:g.10183566A>T GRCh37
NC_000003.10:g.10158566A>T NCBI36
NG_008212.3:g.5248A>T , LRG_322:g.5248A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.35A>T ENSP00000512434.1:p.Glu12Val
ENST00000696143.1:c.35A>T ENSP00000512435.1:p.Glu12Val
ENST00000696153.1:c.35A>T ENSP00000512444.1:p.Glu12Val
ENST00000256474.3:c.35A>T MANE Select ENSP00000256474.3:p.Glu12Val
ENST00000256474.2:c.35A>T ENSP00000256474.2:p.Glu12Val
ENST00000345392.2:c.35A>T ENSP00000344757.2:p.Glu12Val
NM_000551.3:c.35A>T , LRG_322t1:c.35A>T NP_000542.1:p.Glu12Val
NM_198156.2:c.35A>T NP_937799.1:p.Glu12Val
XM_011534078.1:c.35A>T XP_011532380.1:p.Glu12Val
NM_001354723.1:c.35A>T NP_001341652.1:p.Glu12Val
NM_000551.4:c.35A>T MANE Select NP_000542.1:p.Glu12Val
NM_001354723.2:c.35A>T NP_001341652.1:p.Glu12Val
NM_198156.3:c.35A>T NP_937799.1:p.Glu12Val