Canonical Allele Identifier: CA540877282
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10150292G>A
GRCh37 chr3:g.10191976G>A
gnomAD v2:
3:10191976 G / A
gnomAD v3:
3:10150292 G / A
gnomAD v4:
chr3-10150292-G-A
Joint Max Group AF 0.00000216 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000101 (NFE)
ClinVar RCV:
RCV001148638
ClinVar Variation:
902226
dbSNP:
1247645604
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150292G>A , CM000665.2:g.10150292G>A GRCh38
NC_000003.11:g.10191976G>A , CM000665.1:g.10191976G>A GRCh37
NC_000003.10:g.10166976G>A NCBI36
NG_008212.3:g.13658G>A , LRG_322:g.13658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*646G>A ENSP00000512434.1:n.*646G>A
ENST00000696143.1:c.1105G>A ENSP00000512435.1:n.1105G>A
ENST00000696153.1:c.*327G>A ENSP00000512444.1:n.*327G>A
ENST00000256474.3:c.*327G>A MANE Select ENSP00000256474.3:n.*327G>A
ENST00000256474.2:c.*327G>A ENSP00000256474.2:n.*327G>A
ENST00000345392.2:c.*327G>A ENSP00000344757.2:n.*327G>A
NM_000551.3:c.*327G>A , LRG_322t1:c.*327G>A NP_000542.1:n.*327G>A
NM_198156.2:c.*327G>A NP_937799.1:n.*327G>A
NM_001354723.1:c.*523G>A NP_001341652.1:n.*523G>A
NM_000551.4:c.*327G>A MANE Select NP_000542.1:n.*327G>A
NM_001354723.2:c.*523G>A NP_001341652.1:n.*523G>A
NM_198156.3:c.*327G>A NP_937799.1:n.*327G>A
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