Canonical Allele Identifier: CA351753772
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1733659
dbSNP Id: rs1696261924
COSMIC: COSM17967

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146538C>A , CM000665.2:g.10146538C>A GRCh38
NC_000003.11:g.10188222C>A , CM000665.1:g.10188222C>A GRCh37
NC_000003.10:g.10163222C>A NCBI36
NG_008212.3:g.9904C>A , LRG_322:g.9904C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*42C>A ENSP00000512434.1:n.*42C>A
ENST00000696143.1:c.600-3249C>A ENSP00000512435.1:n.600-3249C>A
ENST00000696153.1:c.365C>A ENSP00000512444.1:p.Ala122Glu
ENST00000256474.3:c.365C>A MANE Select ENSP00000256474.3:p.Ala122Glu
ENST00000256474.2:c.365C>A ENSP00000256474.2:p.Ala122Glu
ENST00000345392.2:c.341-3249C>A ENSP00000344757.2:n.341-3249C>A
ENST00000477538.1:n.501C>A
NM_000551.3:c.365C>A , LRG_322t1:c.365C>A NP_000542.1:p.Ala122Glu
NM_198156.2:c.341-3249C>A NP_937799.1:n.341-3249C>A
XM_011534078.1:c.*42C>A XP_011532380.1:n.*42C>A
NM_001354723.1:c.*18-3249C>A NP_001341652.1:n.*18-3249C>A
NM_000551.4:c.365C>A MANE Select NP_000542.1:p.Ala122Glu
NM_001354723.2:c.*18-3249C>A NP_001341652.1:n.*18-3249C>A
NM_198156.3:c.341-3249C>A NP_937799.1:n.341-3249C>A