Canonical Allele Identifier: CA2573136137
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1469973
ClinVar RCV Id: RCV001963962
dbSNP Id: rs1696163737

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142966G>A , CM000665.2:g.10142966G>A GRCh38
NC_000003.11:g.10184650G>A , CM000665.1:g.10184650G>A GRCh37
NC_000003.10:g.10159650G>A NCBI36
NG_008212.3:g.6332G>A , LRG_322:g.6332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.544G>A ENSP00000512434.1:p.Glu182Lys
ENST00000696143.1:c.544G>A ENSP00000512435.1:p.Glu182Lys
ENST00000696153.1:c.340+779G>A ENSP00000512444.1:n.340+779G>A
ENST00000256474.3:c.340+779G>A MANE Select ENSP00000256474.3:n.340+779G>A
ENST00000256474.2:c.340+779G>A ENSP00000256474.2:n.340+779G>A
ENST00000345392.2:c.340+779G>A ENSP00000344757.2:n.340+779G>A
ENST00000477538.1:n.421G>A
NM_000551.3:c.340+779G>A , LRG_322t1:c.340+779G>A NP_000542.1:n.340+779G>A
NM_198156.2:c.340+779G>A NP_937799.1:n.340+779G>A
XM_011534078.1:c.544G>A XP_011532380.1:p.Glu182Lys
NM_001354723.1:c.544G>A NP_001341652.1:p.Glu182Lys
NM_000551.4:c.340+779G>A MANE Select NP_000542.1:n.340+779G>A
NM_001354723.2:c.544G>A NP_001341652.1:p.Glu182Lys
NM_198156.3:c.340+779G>A NP_937799.1:n.340+779G>A