Canonical Allele Identifier: CA1345068863

Gene: VHL

Linked Data

• dbSNP Id: rs1696217977
• gnomAD v3: 3-10144840-A-G
• gnomAD v4: 3-10144840-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144840A>G , CM000665.2:g.10144840A>G	GRCh38
NC_000003.11:g.10186524A>G , CM000665.1:g.10186524A>G	GRCh37
NC_000003.10:g.10161524A>G	NCBI36
NG_008212.3:g.8206A>G , LRG_322:g.8206A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1674A>G	ENSP00000512434.1:n.*18-1674A>G
ENST00000696143.1:c.599+1819A>G	ENSP00000512435.1:n.599+1819A>G
ENST00000696153.1:c.341-1674A>G	ENSP00000512444.1:n.341-1674A>G
ENST00000256474.3:c.341-1674A>G MANE Select	ENSP00000256474.3:n.341-1674A>G
ENST00000256474.2:c.341-1674A>G	ENSP00000256474.2:n.341-1674A>G
ENST00000345392.2:c.340+2653A>G	ENSP00000344757.2:n.340+2653A>G
ENST00000477538.1:n.477-1674A>G
NM_000551.3:c.341-1674A>G , LRG_322t1:c.341-1674A>G	NP_000542.1:n.341-1674A>G
NM_198156.2:c.340+2653A>G	NP_937799.1:n.340+2653A>G
XM_011534078.1:c.*18-1674A>G	XP_011532380.1:n.*18-1674A>G
NM_001354723.1:c.*17+1819A>G	NP_001341652.1:n.*17+1819A>G
NM_000551.4:c.341-1674A>G MANE Select	NP_000542.1:n.341-1674A>G
NM_001354723.2:c.*17+1819A>G	NP_001341652.1:n.*17+1819A>G
NM_198156.3:c.340+2653A>G	NP_937799.1:n.340+2653A>G