Canonical Allele Identifier: CA041791
Gene: VHL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.10149922G>A
GRCh37 chr3:g.10191606G>A
Revel Score:
ENST00000256474 (MANE Select) 0.738
ENST00000345392 0.738
ENST00000450183 0.738
gnomAD v2:
3:10191606 G / A
gnomAD v3:
3:10149922 G / A
gnomAD v4:
chr3-10149922-G-A
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149922G>A , CM000665.2:g.10149922G>A GRCh38
NC_000003.11:g.10191606G>A , CM000665.1:g.10191606G>A GRCh37
NC_000003.10:g.10166606G>A NCBI36
NG_008212.3:g.13288G>A , LRG_322:g.13288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*276G>A ENSP00000512434.1:n.*276G>A
ENST00000696143.1:c.735G>A ENSP00000512435.1:n.735G>A
ENST00000696153.1:c.710G>A ENSP00000512444.1:p.Arg237Gln
ENST00000256474.3:c.599G>A MANE Select ENSP00000256474.3:p.Arg200Gln
ENST00000256474.2:c.599G>A ENSP00000256474.2:p.Arg200Gln
ENST00000345392.2:c.476G>A ENSP00000344757.2:p.Arg159Gln
ENST00000477538.1:n.735G>A
NM_000551.3:c.599G>A , LRG_322t1:c.599G>A NP_000542.1:p.Arg200Gln
NM_198156.2:c.476G>A NP_937799.1:p.Arg159Gln
NM_001354723.1:c.*153G>A NP_001341652.1:n.*153G>A
NM_000551.4:c.599G>A MANE Select NP_000542.1:p.Arg200Gln
NM_001354723.2:c.*153G>A NP_001341652.1:n.*153G>A
NM_198156.3:c.476G>A NP_937799.1:p.Arg159Gln
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