Canonical Allele Identifier: CA020480
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 161403
dbSNP Id: rs367545984

User contributed link-outs

CIViC: CA020480

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149879G>A , CM000665.2:g.10149879G>A GRCh38
NC_000003.11:g.10191563G>A , CM000665.1:g.10191563G>A GRCh37
NC_000003.10:g.10166563G>A NCBI36
NG_008212.3:g.13245G>A , LRG_322:g.13245G>A

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.556G>A , LRG_322t1:c.556G>A NP_000542.1:p.Glu186Lys
NM_198156.2:c.433G>A VV NP_937799.1:p.Glu145Lys
NM_001354723.1:c.*110G>A VV NP_001341652.1:p.=
ENST00000256474.2:c.556G>A ENSP00000256474.2:p.Glu186Lys
ENST00000345392.2:c.433G>A ENSP00000344757.2:p.Glu145Lys
ENST00000477538.1:n.692G>A