Canonical Allele Identifier: CA10616789
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342486
ClinVar RCV Id: RCV000348799
dbSNP Id: rs886057746

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152727T>C , CM000665.2:g.10152727T>C GRCh38
NC_000003.11:g.10194411T>C , CM000665.1:g.10194411T>C GRCh37
NC_000003.10:g.10169411T>C NCBI36
NG_008212.3:g.16093T>C , LRG_322:g.16093T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*2762T>C MANE Select ENSP00000256474.3:p.=
NM_000551.3:c.*2762T>C , LRG_322t1:c.*2762T>C NP_000542.1:p.=
NM_198156.2:c.*2762T>C NP_937799.1:p.=
NM_001354723.1:c.*2958T>C NP_001341652.1:p.=
NM_000551.4:c.*2762T>C MANE Select NP_000542.1:p.=
NM_001354723.2:c.*2958T>C NP_001341652.1:p.=
NM_198156.3:c.*2762T>C NP_937799.1:p.=