Canonical Allele Identifier: CA040752
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 456587
dbSNP Id: rs369018004
gnomAD v2: 3-10188242-C-T
gnomAD v3: 3-10146558-C-T
gnomAD v4: 3-10146558-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*62C>T ENSP00000512434.1:n.*62C>T
ENST00000696143.1:c.600-3229C>T ENSP00000512435.1:n.600-3229C>T
ENST00000696153.1:c.385C>T ENSP00000512444.1:p.Leu129=
ENST00000256474.3:c.385C>T MANE Select ENSP00000256474.3:p.Leu129=
ENST00000256474.2:c.385C>T ENSP00000256474.2:p.Leu129=
ENST00000345392.2:c.341-3229C>T ENSP00000344757.2:n.341-3229C>T
ENST00000477538.1:n.521C>T
NM_000551.3:c.385C>T , LRG_322t1:c.385C>T NP_000542.1:p.Leu129=
NM_198156.2:c.341-3229C>T NP_937799.1:n.341-3229C>T
XM_011534078.1:c.*62C>T XP_011532380.1:n.*62C>T
NM_001354723.1:c.*18-3229C>T NP_001341652.1:n.*18-3229C>T
NM_000551.4:c.385C>T MANE Select NP_000542.1:p.Leu129=
NM_001354723.2:c.*18-3229C>T NP_001341652.1:n.*18-3229C>T
NM_198156.3:c.341-3229C>T NP_937799.1:n.341-3229C>T