Canonical Allele Identifier: CA2702124230

Gene: VHL

Linked Data

• dbSNP Id: rs2125129152

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147515T>G , CM000665.2:g.10147515T>G	GRCh38
NC_000003.11:g.10189199T>G , CM000665.1:g.10189199T>G	GRCh37
NC_000003.10:g.10164199T>G	NCBI36
NG_008212.3:g.10881T>G , LRG_322:g.10881T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+879T>G	ENSP00000512434.1:n.*140+879T>G
ENST00000696143.1:c.600-2272T>G	ENSP00000512435.1:n.600-2272T>G
ENST00000696153.1:c.463+879T>G	ENSP00000512444.1:n.463+879T>G
ENST00000256474.3:c.463+879T>G MANE Select	ENSP00000256474.3:n.463+879T>G
ENST00000256474.2:c.463+879T>G	ENSP00000256474.2:n.463+879T>G
ENST00000345392.2:c.341-2272T>G	ENSP00000344757.2:n.341-2272T>G
ENST00000477538.1:n.599+879T>G
NM_000551.3:c.463+879T>G , LRG_322t1:c.463+879T>G	NP_000542.1:n.463+879T>G
NM_198156.2:c.341-2272T>G	NP_937799.1:n.341-2272T>G
NM_001354723.1:c.*18-2272T>G	NP_001341652.1:n.*18-2272T>G
NM_000551.4:c.463+879T>G MANE Select	NP_000542.1:n.463+879T>G
NM_001354723.2:c.*18-2272T>G	NP_001341652.1:n.*18-2272T>G
NM_198156.3:c.341-2272T>G	NP_937799.1:n.341-2272T>G