Canonical Allele Identifier: CA70049495
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 496065
dbSNP Id: rs5030833
COSMIC: COSM17971

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146580T>G , CM000665.2:g.10146580T>G GRCh38
NC_000003.11:g.10188264T>G , CM000665.1:g.10188264T>G GRCh37
NC_000003.10:g.10163264T>G NCBI36
NG_008212.3:g.9946T>G , LRG_322:g.9946T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.407T>G MANE Select ENSP00000256474.3:p.Phe136Cys
ENST00000256474.2:c.407T>G ENSP00000256474.2:p.Phe136Cys
ENST00000345392.2:c.341-3207T>G ENSP00000344757.2:p.=
ENST00000477538.1:n.543T>G
NM_000551.3:c.407T>G , LRG_322t1:c.407T>G NP_000542.1:p.Phe136Cys
NM_198156.2:c.341-3207T>G NP_937799.1:p.=
XM_011534078.1:c.*84T>G XP_011532380.1:p.=
NM_001354723.1:c.*18-3207T>G NP_001341652.1:p.=
NM_000551.4:c.407T>G MANE Select NP_000542.1:p.Phe136Cys
NM_001354723.2:c.*18-3207T>G NP_001341652.1:p.=
NM_198156.3:c.341-3207T>G NP_937799.1:p.=