Canonical Allele Identifier: CA10614392
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10150259G>A
GRCh37 chr3:g.10191943G>A
gnomAD v2:
3:10191943 G / A
gnomAD v3:
3:10150259 G / A
gnomAD v4:
chr3-10150259-G-A
Joint Max Group AF 0.75259761 (EAS)
Genomes Max Group AF 0.76774684 (EAS)
Exomes Max Group AF 0.74629245 (EAS)
ClinVar RCV:
RCV000348075
RCV001613128
ClinVar Variation:
342407
dbSNP:
1642742
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150259G>A , CM000665.2:g.10150259G>A GRCh38
NC_000003.11:g.10191943G>A , CM000665.1:g.10191943G>A GRCh37
NC_000003.10:g.10166943G>A NCBI36
NG_008212.3:g.13625G>A , LRG_322:g.13625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*613G>A ENSP00000512434.1:n.*613G>A
ENST00000696143.1:c.1072G>A ENSP00000512435.1:n.1072G>A
ENST00000696153.1:c.*294G>A ENSP00000512444.1:n.*294G>A
ENST00000256474.3:c.*294G>A MANE Select ENSP00000256474.3:n.*294G>A
ENST00000256474.2:c.*294G>A ENSP00000256474.2:n.*294G>A
ENST00000345392.2:c.*294G>A ENSP00000344757.2:n.*294G>A
NM_000551.3:c.*294G>A , LRG_322t1:c.*294G>A NP_000542.1:n.*294G>A
NM_198156.2:c.*294G>A NP_937799.1:n.*294G>A
NM_001354723.1:c.*490G>A NP_001341652.1:n.*490G>A
NM_000551.4:c.*294G>A MANE Select NP_000542.1:n.*294G>A
NM_001354723.2:c.*490G>A NP_001341652.1:n.*490G>A
NM_198156.3:c.*294G>A NP_937799.1:n.*294G>A
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