Canonical Allele Identifier: CA040734
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 486710
dbSNP Id: rs369018004
gnomAD v2: 3-10188242-C-G
gnomAD v4: 3-10146558-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146558C>G , CM000665.2:g.10146558C>G GRCh38
NC_000003.11:g.10188242C>G , CM000665.1:g.10188242C>G GRCh37
NC_000003.10:g.10163242C>G NCBI36
NG_008212.3:g.9924C>G , LRG_322:g.9924C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*62C>G ENSP00000512434.1:n.*62C>G
ENST00000696143.1:c.600-3229C>G ENSP00000512435.1:n.600-3229C>G
ENST00000696153.1:c.385C>G ENSP00000512444.1:p.Leu129Val
ENST00000256474.3:c.385C>G MANE Select ENSP00000256474.3:p.Leu129Val
ENST00000256474.2:c.385C>G ENSP00000256474.2:p.Leu129Val
ENST00000345392.2:c.341-3229C>G ENSP00000344757.2:n.341-3229C>G
ENST00000477538.1:n.521C>G
NM_000551.3:c.385C>G , LRG_322t1:c.385C>G NP_000542.1:p.Leu129Val
NM_198156.2:c.341-3229C>G NP_937799.1:n.341-3229C>G
XM_011534078.1:c.*62C>G XP_011532380.1:n.*62C>G
NM_001354723.1:c.*18-3229C>G NP_001341652.1:n.*18-3229C>G
NM_000551.4:c.385C>G MANE Select NP_000542.1:p.Leu129Val
NM_001354723.2:c.*18-3229C>G NP_001341652.1:n.*18-3229C>G
NM_198156.3:c.341-3229C>G NP_937799.1:n.341-3229C>G