Canonical Allele Identifier: CA1044996250

Gene: VHL

Linked Data

• dbSNP Id: rs904257487
• gnomAD v3: 3-10144345-T-G
• gnomAD v4: 3-10144345-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144345T>G , CM000665.2:g.10144345T>G	GRCh38
NC_000003.11:g.10186029T>G , CM000665.1:g.10186029T>G	GRCh37
NC_000003.10:g.10161029T>G	NCBI36
NG_008212.3:g.7711T>G , LRG_322:g.7711T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1324T>G	ENSP00000512434.1:n.*17+1324T>G
ENST00000696143.1:c.599+1324T>G	ENSP00000512435.1:n.599+1324T>G
ENST00000696153.1:c.340+2158T>G	ENSP00000512444.1:n.340+2158T>G
ENST00000256474.3:c.340+2158T>G MANE Select	ENSP00000256474.3:n.340+2158T>G
ENST00000256474.2:c.340+2158T>G	ENSP00000256474.2:n.340+2158T>G
ENST00000345392.2:c.340+2158T>G	ENSP00000344757.2:n.340+2158T>G
ENST00000477538.1:n.476+1324T>G
NM_000551.3:c.340+2158T>G , LRG_322t1:c.340+2158T>G	NP_000542.1:n.340+2158T>G
NM_198156.2:c.340+2158T>G	NP_937799.1:n.340+2158T>G
XM_011534078.1:c.*17+1324T>G	XP_011532380.1:n.*17+1324T>G
NM_001354723.1:c.*17+1324T>G	NP_001341652.1:n.*17+1324T>G
NM_000551.4:c.340+2158T>G MANE Select	NP_000542.1:n.340+2158T>G
NM_001354723.2:c.*17+1324T>G	NP_001341652.1:n.*17+1324T>G
NM_198156.3:c.340+2158T>G	NP_937799.1:n.340+2158T>G