Canonical Allele Identifier: CA357133
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223223
dbSNP Id: rs869025660
COSMIC: COSM18025
CIViC: CA357133

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149793C>T , CM000665.2:g.10149793C>T GRCh38
NC_000003.11:g.10191477C>T , CM000665.1:g.10191477C>T GRCh37
NC_000003.10:g.10166477C>T NCBI36
NG_008212.3:g.13159C>T , LRG_322:g.13159C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*147C>T ENSP00000512434.1:n.*147C>T
ENST00000696143.1:c.606C>T ENSP00000512435.1:n.606C>T
ENST00000696153.1:c.581C>T ENSP00000512444.1:p.Thr194Ile
ENST00000256474.3:c.470C>T MANE Select ENSP00000256474.3:p.Thr157Ile
ENST00000256474.2:c.470C>T ENSP00000256474.2:p.Thr157Ile
ENST00000345392.2:c.347C>T ENSP00000344757.2:p.Thr116Ile
ENST00000477538.1:n.606C>T
NM_000551.3:c.470C>T , LRG_322t1:c.470C>T NP_000542.1:p.Thr157Ile
NM_198156.2:c.347C>T NP_937799.1:p.Thr116Ile
NM_001354723.1:c.*24C>T NP_001341652.1:n.*24C>T
NM_000551.4:c.470C>T MANE Select NP_000542.1:p.Thr157Ile
NM_001354723.2:c.*24C>T NP_001341652.1:n.*24C>T
NM_198156.3:c.347C>T NP_937799.1:p.Thr116Ile