Canonical Allele Identifier: CA020394

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149790A>G , CM000665.2:g.10149790A>G	GRCh38
NC_000003.11:g.10191474A>G , CM000665.1:g.10191474A>G	GRCh37
NC_000003.10:g.10166474A>G	NCBI36
NG_008212.3:g.13156A>G , LRG_322:g.13156A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.467A>G MANE Select	NP_000542.1:p.Tyr156Cys
ENST00000256474.3:c.467A>G MANE Select	ENSP00000256474.3:p.Tyr156Cys
NM_000551.3:c.467A>G , LRG_322t1:c.467A>G	NP_000542.1:p.Tyr156Cys
NM_001354723.1:c.*21A>G	NP_001341652.1:n.*21A>G
NM_001354723.2:c.*21A>G	NP_001341652.1:n.*21A>G
NM_198156.2:c.344A>G	NP_937799.1:p.Tyr115Cys
NM_198156.3:c.344A>G	NP_937799.1:p.Tyr115Cys
ENST00000256474.2:c.467A>G	ENSP00000256474.2:p.Tyr156Cys
ENST00000345392.2:c.344A>G	ENSP00000344757.2:p.Tyr115Cys
ENST00000477538.1:n.603A>G
ENST00000696142.1:c.*144A>G	ENSP00000512434.1:n.*144A>G
ENST00000696143.1:c.603A>G	ENSP00000512435.1:n.603A>G
ENST00000696153.1:c.578A>G	ENSP00000512444.1:p.Tyr193Cys