Canonical Allele Identifier: CA020061
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182982
ClinVar RCV Id: RCV000161090 RCV000576421 RCV000656989 RCV000685691 RCV001012120 RCV002505196 RCV003315234 RCV003462111
dbSNP Id: rs373068386
ExAC: 3:10183685 G / T
gnomAD v2: 3-10183685-G-T
gnomAD v3: 3-10142001-G-T
gnomAD v4: 3-10142001-G-T
MyVariant Identifiers: chr3:g.10183685G>T (hg19) chr3:g.10142001G>T (hg38)
CIViC: CA020061
PubMed: PMID:9671762 PMID:9829912 PMID:10102622 PMID:10766184 PMID:21463266 PMID:23541568 PMID:24583008 PMID:25966224 PMID:26211615 PMID:26681312 PMID:27651169 PMID:28454591
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142001G>T , CM000665.2:g.10142001G>T GRCh38
NC_000003.11:g.10183685G>T , CM000665.1:g.10183685G>T GRCh37
NC_000003.10:g.10158685G>T NCBI36
NG_008212.3:g.5367G>T , LRG_322:g.5367G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.154G>T ENSP00000512434.1:p.Glu52Ter
ENST00000696143.1:c.154G>T ENSP00000512435.1:p.Glu52Ter
ENST00000696153.1:c.154G>T ENSP00000512444.1:p.Glu52Ter
ENST00000256474.3:c.154G>T MANE Select ENSP00000256474.3:p.Glu52Ter
ENST00000256474.2:c.154G>T ENSP00000256474.2:p.Glu52Ter
ENST00000345392.2:c.154G>T ENSP00000344757.2:p.Glu52Ter
NM_000551.3:c.154G>T , LRG_322t1:c.154G>T NP_000542.1:p.Glu52Ter
NM_198156.2:c.154G>T NP_937799.1:p.Glu52Ter
XM_011534078.1:c.154G>T XP_011532380.1:p.Glu52Ter
NM_001354723.1:c.154G>T NP_001341652.1:p.Glu52Ter
NM_000551.4:c.154G>T MANE Select NP_000542.1:p.Glu52Ter
NM_001354723.2:c.154G>T NP_001341652.1:p.Glu52Ter
NM_198156.3:c.154G>T NP_937799.1:p.Glu52Ter
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