Canonical Allele Identifier: CA351748143
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 964821
ClinVar RCV Id: RCV001239129
dbSNP Id: rs1457039250
gnomAD v4: 3-10141986-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141986G>T , CM000665.2:g.10141986G>T GRCh38
NC_000003.11:g.10183670G>T , CM000665.1:g.10183670G>T GRCh37
NC_000003.10:g.10158670G>T NCBI36
NG_008212.3:g.5352G>T , LRG_322:g.5352G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.139G>T ENSP00000512434.1:p.Glu47Ter
ENST00000696143.1:c.139G>T ENSP00000512435.1:p.Glu47Ter
ENST00000696153.1:c.139G>T ENSP00000512444.1:p.Glu47Ter
ENST00000256474.3:c.139G>T MANE Select ENSP00000256474.3:p.Glu47Ter
ENST00000256474.2:c.139G>T ENSP00000256474.2:p.Glu47Ter
ENST00000345392.2:c.139G>T ENSP00000344757.2:p.Glu47Ter
NM_000551.3:c.139G>T , LRG_322t1:c.139G>T NP_000542.1:p.Glu47Ter
NM_198156.2:c.139G>T NP_937799.1:p.Glu47Ter
XM_011534078.1:c.139G>T XP_011532380.1:p.Glu47Ter
NM_001354723.1:c.139G>T NP_001341652.1:p.Glu47Ter
NM_000551.4:c.139G>T MANE Select NP_000542.1:p.Glu47Ter
NM_001354723.2:c.139G>T NP_001341652.1:p.Glu47Ter
NM_198156.3:c.139G>T NP_937799.1:p.Glu47Ter