Canonical Allele Identifier: CA020484
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 135407
dbSNP Id: rs587778744
gnomAD v4: 3-10149881-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149881A>C , CM000665.2:g.10149881A>C GRCh38
NC_000003.11:g.10191565A>C , CM000665.1:g.10191565A>C GRCh37
NC_000003.10:g.10166565A>C NCBI36
NG_008212.3:g.13247A>C , LRG_322:g.13247A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*235A>C ENSP00000512434.1:n.*235A>C
ENST00000696143.1:c.694A>C ENSP00000512435.1:n.694A>C
ENST00000696153.1:c.669A>C ENSP00000512444.1:p.Glu223Asp
ENST00000256474.3:c.558A>C MANE Select ENSP00000256474.3:p.Glu186Asp
ENST00000256474.2:c.558A>C ENSP00000256474.2:p.Glu186Asp
ENST00000345392.2:c.435A>C ENSP00000344757.2:p.Glu145Asp
ENST00000477538.1:n.694A>C
NM_000551.3:c.558A>C , LRG_322t1:c.558A>C NP_000542.1:p.Glu186Asp
NM_198156.2:c.435A>C NP_937799.1:p.Glu145Asp
NM_001354723.1:c.*112A>C NP_001341652.1:n.*112A>C
NM_000551.4:c.558A>C MANE Select NP_000542.1:p.Glu186Asp
NM_001354723.2:c.*112A>C NP_001341652.1:n.*112A>C
NM_198156.3:c.435A>C NP_937799.1:p.Glu145Asp