Canonical Allele Identifier: CA020056

Gene: VHL

Linked Data

• ClinVar Variation Id: 161402
• ClinVar RCV Id: RCV000148923 ; RCV000575111 ; RCV000227809 ; RCV001704076 ; RCV001843484 ; RCV002465537 ; RCV002467589 ; RCV003415985
• dbSNP Id: rs373068386
• ExAC: 3:10183685 G / A
• gnomAD v2: 3-10183685-G-A
• gnomAD v3: 3-10142001-G-A
• gnomAD v4: 3-10142001-G-A
• COSMIC: COSM1417286
• MyVariant Identifiers: chr3:g.10183685G>A (hg19) ; chr3:g.10142001G>A (hg38)
• ERepo: CA020056/MONDO:0008667/078
• CIViC: CA020056
• PubMed: PMID:9829912 ; PMID:11257211 ; PMID:12202531 ; PMID:15300849 ; PMID:19574279 ; PMID:24055113 ; PMID:25637381 ; PMID:26211615

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.154G>A	ENSP00000512434.1:p.Glu52Lys
ENST00000696143.1:c.154G>A	ENSP00000512435.1:p.Glu52Lys
ENST00000696153.1:c.154G>A	ENSP00000512444.1:p.Glu52Lys
ENST00000256474.3:c.154G>A MANE Select	ENSP00000256474.3:p.Glu52Lys
ENST00000256474.2:c.154G>A	ENSP00000256474.2:p.Glu52Lys
ENST00000345392.2:c.154G>A	ENSP00000344757.2:p.Glu52Lys
NM_000551.3:c.154G>A , LRG_322t1:c.154G>A	NP_000542.1:p.Glu52Lys
NM_198156.2:c.154G>A	NP_937799.1:p.Glu52Lys
XM_011534078.1:c.154G>A	XP_011532380.1:p.Glu52Lys
NM_001354723.1:c.154G>A	NP_001341652.1:p.Glu52Lys
NM_000551.4:c.154G>A MANE Select	NP_000542.1:p.Glu52Lys
NM_001354723.2:c.154G>A	NP_001341652.1:p.Glu52Lys
NM_198156.3:c.154G>A	NP_937799.1:p.Glu52Lys