Canonical Allele Identifier: CA432420444
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 526699
dbSNP Id: rs1553619424

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142087T>C , CM000665.2:g.10142087T>C GRCh38
NC_000003.11:g.10183771T>C , CM000665.1:g.10183771T>C GRCh37
NC_000003.10:g.10158771T>C NCBI36
NG_008212.3:g.5453T>C , LRG_322:g.5453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.240T>C ENSP00000512434.1:p.Ser80=
ENST00000696143.1:c.240T>C ENSP00000512435.1:p.Ser80=
ENST00000696153.1:c.240T>C ENSP00000512444.1:p.Ser80=
ENST00000256474.3:c.240T>C MANE Select ENSP00000256474.3:p.Ser80=
ENST00000256474.2:c.240T>C ENSP00000256474.2:p.Ser80=
ENST00000345392.2:c.240T>C ENSP00000344757.2:p.Ser80=
NM_000551.3:c.240T>C , LRG_322t1:c.240T>C NP_000542.1:p.Ser80=
NM_198156.2:c.240T>C NP_937799.1:p.Ser80=
XM_011534078.1:c.240T>C XP_011532380.1:p.Ser80=
NM_001354723.1:c.240T>C NP_001341652.1:p.Ser80=
NM_000551.4:c.240T>C MANE Select NP_000542.1:p.Ser80=
NM_001354723.2:c.240T>C NP_001341652.1:p.Ser80=
NM_198156.3:c.240T>C NP_937799.1:p.Ser80=