Canonical Allele Identifier: CA645525018

Gene: VHL

Linked Data

• dbSNP Id: rs1454518687
• COSMIC: COSM17776

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146659A>G , CM000665.2:g.10146659A>G	GRCh38
NC_000003.11:g.10188343A>G , CM000665.1:g.10188343A>G	GRCh37
NC_000003.10:g.10163343A>G	NCBI36
NG_008212.3:g.10025A>G , LRG_322:g.10025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+23A>G	ENSP00000512434.1:n.*140+23A>G
ENST00000696143.1:c.600-3128A>G	ENSP00000512435.1:n.600-3128A>G
ENST00000696153.1:c.463+23A>G	ENSP00000512444.1:n.463+23A>G
ENST00000256474.3:c.463+23A>G MANE Select	ENSP00000256474.3:n.463+23A>G
ENST00000256474.2:c.463+23A>G	ENSP00000256474.2:n.463+23A>G
ENST00000345392.2:c.341-3128A>G	ENSP00000344757.2:n.341-3128A>G
ENST00000477538.1:n.599+23A>G
NM_000551.3:c.463+23A>G , LRG_322t1:c.463+23A>G	NP_000542.1:n.463+23A>G
NM_198156.2:c.341-3128A>G	NP_937799.1:n.341-3128A>G
NM_001354723.1:c.*18-3128A>G	NP_001341652.1:n.*18-3128A>G
NM_000551.4:c.463+23A>G MANE Select	NP_000542.1:n.463+23A>G
NM_001354723.2:c.*18-3128A>G	NP_001341652.1:n.*18-3128A>G
NM_198156.3:c.341-3128A>G	NP_937799.1:n.341-3128A>G