Canonical Allele Identifier: CA16611250
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411975
dbSNP Id: rs1017141110
gnomAD v2: 3-10183558-C-A
gnomAD v3: 3-10141874-C-A
gnomAD v4: 3-10141874-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141874C>A , CM000665.2:g.10141874C>A GRCh38
NC_000003.11:g.10183558C>A , CM000665.1:g.10183558C>A GRCh37
NC_000003.10:g.10158558C>A NCBI36
NG_008212.3:g.5240C>A , LRG_322:g.5240C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.27C>A ENSP00000512434.1:p.Asp9Glu
ENST00000696143.1:c.27C>A ENSP00000512435.1:p.Asp9Glu
ENST00000696153.1:c.27C>A ENSP00000512444.1:p.Asp9Glu
ENST00000256474.3:c.27C>A MANE Select ENSP00000256474.3:p.Asp9Glu
ENST00000256474.2:c.27C>A ENSP00000256474.2:p.Asp9Glu
ENST00000345392.2:c.27C>A ENSP00000344757.2:p.Asp9Glu
NM_000551.3:c.27C>A , LRG_322t1:c.27C>A NP_000542.1:p.Asp9Glu
NM_198156.2:c.27C>A NP_937799.1:p.Asp9Glu
XM_011534078.1:c.27C>A XP_011532380.1:p.Asp9Glu
NM_001354723.1:c.27C>A NP_001341652.1:p.Asp9Glu
NM_000551.4:c.27C>A MANE Select NP_000542.1:p.Asp9Glu
NM_001354723.2:c.27C>A NP_001341652.1:p.Asp9Glu
NM_198156.3:c.27C>A NP_937799.1:p.Asp9Glu