Canonical Allele Identifier: CA10614821
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10150268A>T
GRCh37 chr3:g.10191952A>T
gnomAD v2:
3:10191952 A / T
gnomAD v3:
3:10150268 A / T
gnomAD v4:
chr3-10150268-A-T
Joint Max Group AF 0.0094416 (SAS)
Genomes Max Group AF 0.00553841 (SAS)
Exomes Max Group AF 0.00962522 (SAS)
ClinVar RCV:
RCV000393512
ClinVar Variation:
342408
dbSNP:
573000980
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150268A>T , CM000665.2:g.10150268A>T GRCh38
NC_000003.11:g.10191952A>T , CM000665.1:g.10191952A>T GRCh37
NC_000003.10:g.10166952A>T NCBI36
NG_008212.3:g.13634A>T , LRG_322:g.13634A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*622A>T ENSP00000512434.1:n.*622A>T
ENST00000696143.1:c.1081A>T ENSP00000512435.1:n.1081A>T
ENST00000696153.1:c.*303A>T ENSP00000512444.1:n.*303A>T
ENST00000256474.3:c.*303A>T MANE Select ENSP00000256474.3:n.*303A>T
ENST00000256474.2:c.*303A>T ENSP00000256474.2:n.*303A>T
ENST00000345392.2:c.*303A>T ENSP00000344757.2:n.*303A>T
NM_000551.3:c.*303A>T , LRG_322t1:c.*303A>T NP_000542.1:n.*303A>T
NM_198156.2:c.*303A>T NP_937799.1:n.*303A>T
NM_001354723.1:c.*499A>T NP_001341652.1:n.*499A>T
NM_000551.4:c.*303A>T MANE Select NP_000542.1:n.*303A>T
NM_001354723.2:c.*499A>T NP_001341652.1:n.*499A>T
NM_198156.3:c.*303A>T NP_937799.1:n.*303A>T
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