Canonical Allele Identifier: CA2592313299

Gene: VHL

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