Canonical Allele Identifier: CA351756387
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149880A>T , CM000665.2:g.10149880A>T GRCh38
NC_000003.11:g.10191564A>T , CM000665.1:g.10191564A>T GRCh37
NC_000003.10:g.10166564A>T NCBI36
NG_008212.3:g.13246A>T , LRG_322:g.13246A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*234A>T ENSP00000512434.1:n.*234A>T
ENST00000696143.1:c.693A>T ENSP00000512435.1:n.693A>T
ENST00000696153.1:c.668A>T ENSP00000512444.1:p.Glu223Val
ENST00000256474.3:c.557A>T MANE Select ENSP00000256474.3:p.Glu186Val
ENST00000256474.2:c.557A>T ENSP00000256474.2:p.Glu186Val
ENST00000345392.2:c.434A>T ENSP00000344757.2:p.Glu145Val
ENST00000477538.1:n.693A>T
NM_000551.3:c.557A>T , LRG_322t1:c.557A>T NP_000542.1:p.Glu186Val
NM_198156.2:c.434A>T NP_937799.1:p.Glu145Val
NM_001354723.1:c.*111A>T NP_001341652.1:n.*111A>T
NM_000551.4:c.557A>T MANE Select NP_000542.1:p.Glu186Val
NM_001354723.2:c.*111A>T NP_001341652.1:n.*111A>T
NM_198156.3:c.434A>T NP_937799.1:p.Glu145Val