Canonical Allele Identifier: CA1345059726

Gene: VHL

Linked Data

• dbSNP Id: rs1459907919

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147491G>T , CM000665.2:g.10147491G>T	GRCh38
NC_000003.11:g.10189175G>T , CM000665.1:g.10189175G>T	GRCh37
NC_000003.10:g.10164175G>T	NCBI36
NG_008212.3:g.10857G>T , LRG_322:g.10857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+855G>T	ENSP00000512434.1:n.*140+855G>T
ENST00000696143.1:c.600-2296G>T	ENSP00000512435.1:n.600-2296G>T
ENST00000696153.1:c.463+855G>T	ENSP00000512444.1:n.463+855G>T
ENST00000256474.3:c.463+855G>T MANE Select	ENSP00000256474.3:n.463+855G>T
ENST00000256474.2:c.463+855G>T	ENSP00000256474.2:n.463+855G>T
ENST00000345392.2:c.341-2296G>T	ENSP00000344757.2:n.341-2296G>T
ENST00000477538.1:n.599+855G>T
NM_000551.3:c.463+855G>T , LRG_322t1:c.463+855G>T	NP_000542.1:n.463+855G>T
NM_198156.2:c.341-2296G>T	NP_937799.1:n.341-2296G>T
NM_001354723.1:c.*18-2296G>T	NP_001341652.1:n.*18-2296G>T
NM_000551.4:c.463+855G>T MANE Select	NP_000542.1:n.463+855G>T
NM_001354723.2:c.*18-2296G>T	NP_001341652.1:n.*18-2296G>T
NM_198156.3:c.341-2296G>T	NP_937799.1:n.341-2296G>T