Canonical Allele Identifier: CA70046202
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 584477
ClinVar RCV Id: RCV001222557
dbSNP Id: rs5030829
gnomAD v4: 3-10142127-G-T
COSMIC: COSM30220
MyVariant Identifiers: chr3:g.10183811G>T (hg19) chr3:g.10142127G>T (hg38)
CIViC: CA70046202
PCER: P-CER:CA70046202/193300
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.280G>T ENSP00000512434.1:p.Glu94Ter
ENST00000696143.1:c.280G>T ENSP00000512435.1:p.Glu94Ter
ENST00000696153.1:c.280G>T ENSP00000512444.1:p.Glu94Ter
ENST00000256474.3:c.280G>T MANE Select ENSP00000256474.3:p.Glu94Ter
ENST00000256474.2:c.280G>T ENSP00000256474.2:p.Glu94Ter
ENST00000345392.2:c.280G>T ENSP00000344757.2:p.Glu94Ter
NM_000551.3:c.280G>T , LRG_322t1:c.280G>T NP_000542.1:p.Glu94Ter
NM_198156.2:c.280G>T NP_937799.1:p.Glu94Ter
XM_011534078.1:c.280G>T XP_011532380.1:p.Glu94Ter
NM_001354723.1:c.280G>T NP_001341652.1:p.Glu94Ter
NM_000551.4:c.280G>T MANE Select NP_000542.1:p.Glu94Ter
NM_001354723.2:c.280G>T NP_001341652.1:p.Glu94Ter
NM_198156.3:c.280G>T NP_937799.1:p.Glu94Ter
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