Canonical Allele Identifier: CA020237
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 135955
ClinVar RCV Id: RCV000123106 RCV000166872
dbSNP Id: rs5030829
gnomAD v4: 3-10142127-G-A
COSMIC: COSM3734682
MyVariant Identifiers: chr3:g.10183811G>A (hg19) chr3:g.10142127G>A (hg38)
CIViC: CA020237
PubMed: PMID:7987306 PMID:10862095 PMID:12624160 PMID:25952756
PCER: P-CER:CA020237/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142127G>A , CM000665.2:g.10142127G>A GRCh38
NC_000003.11:g.10183811G>A , CM000665.1:g.10183811G>A GRCh37
NC_000003.10:g.10158811G>A NCBI36
NG_008212.3:g.5493G>A , LRG_322:g.5493G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.280G>A ENSP00000512434.1:p.Glu94Lys
ENST00000696143.1:c.280G>A ENSP00000512435.1:p.Glu94Lys
ENST00000696153.1:c.280G>A ENSP00000512444.1:p.Glu94Lys
ENST00000256474.3:c.280G>A MANE Select ENSP00000256474.3:p.Glu94Lys
ENST00000256474.2:c.280G>A ENSP00000256474.2:p.Glu94Lys
ENST00000345392.2:c.280G>A ENSP00000344757.2:p.Glu94Lys
NM_000551.3:c.280G>A , LRG_322t1:c.280G>A NP_000542.1:p.Glu94Lys
NM_198156.2:c.280G>A NP_937799.1:p.Glu94Lys
XM_011534078.1:c.280G>A XP_011532380.1:p.Glu94Lys
NM_001354723.1:c.280G>A NP_001341652.1:p.Glu94Lys
NM_000551.4:c.280G>A MANE Select NP_000542.1:p.Glu94Lys
NM_001354723.2:c.280G>A NP_001341652.1:p.Glu94Lys
NM_198156.3:c.280G>A NP_937799.1:p.Glu94Lys
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