Canonical Allele Identifier: CA10614397
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342411
ClinVar RCV Id: RCV000277950

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150357G>A , CM000665.2:g.10150357G>A GRCh38
NC_000003.11:g.10192041G>A , CM000665.1:g.10192041G>A GRCh37
NC_000003.10:g.10167041G>A NCBI36
NG_008212.3:g.13723G>A , LRG_322:g.13723G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*392G>A MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*392G>A ENSP00000256474.2:p.=
ENST00000345392.2:c.*392G>A ENSP00000344757.2:p.=
NM_000551.3:c.*392G>A , LRG_322t1:c.*392G>A NP_000542.1:p.=
NM_198156.2:c.*392G>A NP_937799.1:p.=
NM_001354723.1:c.*588G>A NP_001341652.1:p.=
NM_000551.4:c.*392G>A MANE Select NP_000542.1:p.=
NM_001354723.2:c.*588G>A NP_001341652.1:p.=
NM_198156.3:c.*392G>A NP_937799.1:p.=