Canonical Allele Identifier: CA020469
Community Standard Title: NM_000551.4(VHL):c.538A>G (p.Ile180Val)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149861A>G , CM000665.2:g.10149861A>G GRCh38
NC_000003.11:g.10191545A>G , CM000665.1:g.10191545A>G GRCh37
NC_000003.10:g.10166545A>G NCBI36
NG_008212.3:g.13227A>G , LRG_322:g.13227A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.538A>G MANE Select NP_000542.1:p.Ile180Val
ENST00000256474.3:c.538A>G MANE Select ENSP00000256474.3:p.Ile180Val
NM_000551.3:c.538A>G , LRG_322t1:c.538A>G NP_000542.1:p.Ile180Val
NM_001354723.1:c.*92A>G NP_001341652.1:n.*92A>G
NM_001354723.2:c.*92A>G NP_001341652.1:n.*92A>G
NM_198156.2:c.415A>G NP_937799.1:p.Ile139Val
NM_198156.3:c.415A>G NP_937799.1:p.Ile139Val
ENST00000256474.2:c.538A>G ENSP00000256474.2:p.Ile180Val
ENST00000345392.2:c.415A>G ENSP00000344757.2:p.Ile139Val
ENST00000477538.1:n.674A>G
ENST00000696142.1:c.*215A>G ENSP00000512434.1:n.*215A>G
ENST00000696143.1:c.674A>G ENSP00000512435.1:n.674A>G
ENST00000696153.1:c.649A>G ENSP00000512444.1:p.Ile217Val
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