Canonical Allele Identifier: CA2592313299
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125126091
gnomAD v3: 3-10142974-C-G
gnomAD v4: 3-10142974-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142974C>G , CM000665.2:g.10142974C>G GRCh38
NC_000003.11:g.10184658C>G , CM000665.1:g.10184658C>G GRCh37
NC_000003.10:g.10159658C>G NCBI36
NG_008212.3:g.6340C>G , LRG_322:g.6340C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.552C>G ENSP00000512434.1:p.Phe184Leu
ENST00000696143.1:c.552C>G ENSP00000512435.1:p.Phe184Leu
ENST00000696153.1:c.340+787C>G ENSP00000512444.1:n.340+787C>G
ENST00000256474.3:c.340+787C>G MANE Select ENSP00000256474.3:n.340+787C>G
ENST00000256474.2:c.340+787C>G ENSP00000256474.2:n.340+787C>G
ENST00000345392.2:c.340+787C>G ENSP00000344757.2:n.340+787C>G
ENST00000477538.1:n.429C>G
NM_000551.3:c.340+787C>G , LRG_322t1:c.340+787C>G NP_000542.1:n.340+787C>G
NM_198156.2:c.340+787C>G NP_937799.1:n.340+787C>G
XM_011534078.1:c.552C>G XP_011532380.1:p.Phe184Leu
NM_001354723.1:c.552C>G NP_001341652.1:p.Phe184Leu
NM_000551.4:c.340+787C>G MANE Select NP_000542.1:n.340+787C>G
NM_001354723.2:c.552C>G NP_001341652.1:p.Phe184Leu
NM_198156.3:c.340+787C>G NP_937799.1:n.340+787C>G