Canonical Allele Identifier: CA1044997905

Gene: VHL

Linked Data

• dbSNP Id: rs2125128900
• gnomAD v3: 3-10147078-C-T
• gnomAD v4: 3-10147078-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147078C>T , CM000665.2:g.10147078C>T	GRCh38
NC_000003.11:g.10188762C>T , CM000665.1:g.10188762C>T	GRCh37
NC_000003.10:g.10163762C>T	NCBI36
NG_008212.3:g.10444C>T , LRG_322:g.10444C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*140+442C>T	ENSP00000512434.1:n.*140+442C>T
ENST00000696143.1:c.600-2709C>T	ENSP00000512435.1:n.600-2709C>T
ENST00000696153.1:c.463+442C>T	ENSP00000512444.1:n.463+442C>T
ENST00000256474.3:c.463+442C>T MANE Select	ENSP00000256474.3:n.463+442C>T
ENST00000256474.2:c.463+442C>T	ENSP00000256474.2:n.463+442C>T
ENST00000345392.2:c.341-2709C>T	ENSP00000344757.2:n.341-2709C>T
ENST00000477538.1:n.599+442C>T
NM_000551.3:c.463+442C>T , LRG_322t1:c.463+442C>T	NP_000542.1:n.463+442C>T
NM_198156.2:c.341-2709C>T	NP_937799.1:n.341-2709C>T
NM_001354723.1:c.*18-2709C>T	NP_001341652.1:n.*18-2709C>T
NM_000551.4:c.463+442C>T MANE Select	NP_000542.1:n.463+442C>T
NM_001354723.2:c.*18-2709C>T	NP_001341652.1:n.*18-2709C>T
NM_198156.3:c.341-2709C>T	NP_937799.1:n.341-2709C>T