Canonical Allele Identifier: CA10616661
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10141653G>A
GRCh37 chr3:g.10183337G>A
gnomAD v2:
3:10183337 G / A
gnomAD v3:
3:10141653 G / A
gnomAD v4:
chr3-10141653-G-A
Joint Max Group AF 0.73469203 (EAS)
Genomes Max Group AF 0.76804454 (EAS)
Exomes Max Group AF 0.72522572 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141653G>A , CM000665.2:g.10141653G>A GRCh38
NC_000003.11:g.10183337G>A , CM000665.1:g.10183337G>A GRCh37
NC_000003.10:g.10158337G>A NCBI36
NG_008212.3:g.5019G>A , LRG_322:g.5019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-195G>A ENSP00000256474.2:n.-195G>A
NM_000551.3:c.-195G>A , LRG_322t1:c.-195G>A NP_000542.1:n.-195G>A
NM_198156.2:c.-195G>A NP_937799.1:n.-195G>A
NM_001354723.1:c.-195G>A NP_001341652.1:n.-195G>A
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