Canonical Allele Identifier: CA351750541
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 933618
ClinVar RCV Id: RCV001201863
dbSNP Id: rs1214305423
gnomAD v2: 3-10183775-C-T
gnomAD v4: 3-10142091-C-T
COSMIC: COSM18358
MyVariant Identifiers: chr3:g.10183775C>T (hg19) chr3:g.10142091C>T (hg38)
CIViC: CA351750541
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142091C>T , CM000665.2:g.10142091C>T GRCh38
NC_000003.11:g.10183775C>T , CM000665.1:g.10183775C>T GRCh37
NC_000003.10:g.10158775C>T NCBI36
NG_008212.3:g.5457C>T , LRG_322:g.5457C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.244C>T ENSP00000512434.1:p.Arg82Cys
ENST00000696143.1:c.244C>T ENSP00000512435.1:p.Arg82Cys
ENST00000696153.1:c.244C>T ENSP00000512444.1:p.Arg82Cys
ENST00000256474.3:c.244C>T MANE Select ENSP00000256474.3:p.Arg82Cys
ENST00000256474.2:c.244C>T ENSP00000256474.2:p.Arg82Cys
ENST00000345392.2:c.244C>T ENSP00000344757.2:p.Arg82Cys
NM_000551.3:c.244C>T , LRG_322t1:c.244C>T NP_000542.1:p.Arg82Cys
NM_198156.2:c.244C>T NP_937799.1:p.Arg82Cys
XM_011534078.1:c.244C>T XP_011532380.1:p.Arg82Cys
NM_001354723.1:c.244C>T NP_001341652.1:p.Arg82Cys
NM_000551.4:c.244C>T MANE Select NP_000542.1:p.Arg82Cys
NM_001354723.2:c.244C>T NP_001341652.1:p.Arg82Cys
NM_198156.3:c.244C>T NP_937799.1:p.Arg82Cys
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