Canonical Allele Identifier: CA357112

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149809C>A , CM000665.2:g.10149809C>A	GRCh38
NC_000003.11:g.10191493C>A , CM000665.1:g.10191493C>A	GRCh37
NC_000003.10:g.10166493C>A	NCBI36
NG_008212.3:g.13175C>A , LRG_322:g.13175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*163C>A	ENSP00000512434.1:n.*163C>A
ENST00000696143.1:c.622C>A	ENSP00000512435.1:n.622C>A
ENST00000696153.1:c.597C>A	ENSP00000512444.1:p.Cys199Ter
ENST00000256474.3:c.486C>A MANE Select	ENSP00000256474.3:p.Cys162Ter
ENST00000256474.2:c.486C>A	ENSP00000256474.2:p.Cys162Ter
ENST00000345392.2:c.363C>A	ENSP00000344757.2:p.Cys121Ter
ENST00000477538.1:n.622C>A
NM_000551.3:c.486C>A , LRG_322t1:c.486C>A	NP_000542.1:p.Cys162Ter
NM_198156.2:c.363C>A	NP_937799.1:p.Cys121Ter
NM_001354723.1:c.*40C>A	NP_001341652.1:n.*40C>A
NM_000551.4:c.486C>A MANE Select	NP_000542.1:p.Cys162Ter
NM_001354723.2:c.*40C>A	NP_001341652.1:n.*40C>A
NM_198156.3:c.363C>A	NP_937799.1:p.Cys121Ter