Canonical Allele Identifier: CA020246
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2223
dbSNP Id: rs5030809
gnomAD v2: 3-10183823-T-C
gnomAD v4: 3-10142139-T-C
CIViC: CA020246

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142139T>C , CM000665.2:g.10142139T>C GRCh38
NC_000003.11:g.10183823T>C , CM000665.1:g.10183823T>C GRCh37
NC_000003.10:g.10158823T>C NCBI36
NG_008212.3:g.5505T>C , LRG_322:g.5505T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.292T>C ENSP00000512434.1:p.Tyr98His
ENST00000696143.1:c.292T>C ENSP00000512435.1:p.Tyr98His
ENST00000696153.1:c.292T>C ENSP00000512444.1:p.Tyr98His
ENST00000256474.3:c.292T>C MANE Select ENSP00000256474.3:p.Tyr98His
ENST00000256474.2:c.292T>C ENSP00000256474.2:p.Tyr98His
ENST00000345392.2:c.292T>C ENSP00000344757.2:p.Tyr98His
NM_000551.3:c.292T>C , LRG_322t1:c.292T>C NP_000542.1:p.Tyr98His
NM_198156.2:c.292T>C NP_937799.1:p.Tyr98His
XM_011534078.1:c.292T>C XP_011532380.1:p.Tyr98His
NM_001354723.1:c.292T>C NP_001341652.1:p.Tyr98His
NM_000551.4:c.292T>C MANE Select NP_000542.1:p.Tyr98His
NM_001354723.2:c.292T>C NP_001341652.1:p.Tyr98His
NM_198156.3:c.292T>C NP_937799.1:p.Tyr98His