Canonical Allele Identifier: CA10614392
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 342407
ClinVar RCV Id: RCV000348075
dbSNP Id: rs1642742

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150259G>A , CM000665.2:g.10150259G>A GRCh38
NC_000003.11:g.10191943G>A , CM000665.1:g.10191943G>A GRCh37
NC_000003.10:g.10166943G>A NCBI36
NG_008212.3:g.13625G>A , LRG_322:g.13625G>A

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.*294G>A , LRG_322t1:c.*294G>A NP_000542.1:p.=
NM_198156.2:c.*294G>A VV NP_937799.1:p.=
NM_001354723.1:c.*490G>A VV NP_001341652.1:p.=
ENST00000256474.2:c.*294G>A ENSP00000256474.2:p.=
ENST00000345392.2:c.*294G>A ENSP00000344757.2:p.=