Canonical Allele Identifier: CA10616708
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342492
ClinVar RCV Id: RCV000355621
dbSNP Id: rs886057750

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152953G>A , CM000665.2:g.10152953G>A GRCh38
NC_000003.11:g.10194637G>A , CM000665.1:g.10194637G>A GRCh37
NC_000003.10:g.10169637G>A NCBI36
NG_008212.3:g.16319G>A , LRG_322:g.16319G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*2988G>A MANE Select ENSP00000256474.3:p.=
NM_000551.3:c.*2988G>A , LRG_322t1:c.*2988G>A NP_000542.1:p.=
NM_198156.2:c.*2988G>A NP_937799.1:p.=
NM_001354723.1:c.*3184G>A NP_001341652.1:p.=
NM_000551.4:c.*2988G>A MANE Select NP_000542.1:p.=
NM_001354723.2:c.*3184G>A NP_001341652.1:p.=
NM_198156.3:c.*2988G>A NP_937799.1:p.=