Canonical Allele Identifier: CA1345068642

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144446T= , CM000665.2:g.10144446T=	GRCh38
NC_000003.11:g.10186130T= , CM000665.1:g.10186130T=	GRCh37
NC_000003.10:g.10161130T=	NCBI36
NG_008212.3:g.7812T= , LRG_322:g.7812T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1425T=	ENSP00000512434.1:n.*17+1425T=
ENST00000696143.1:c.599+1425T=	ENSP00000512435.1:n.599+1425T=
ENST00000696153.1:c.341-2068T=	ENSP00000512444.1:n.341-2068T=
ENST00000256474.3:c.341-2068T= MANE Select	ENSP00000256474.3:n.341-2068T=
ENST00000256474.2:c.341-2068T=	ENSP00000256474.2:n.341-2068T=
ENST00000345392.2:c.340+2259T=	ENSP00000344757.2:n.340+2259T=
ENST00000477538.1:n.476+1425T=
NM_000551.3:c.341-2068T= , LRG_322t1:c.341-2068T=	NP_000542.1:n.341-2068T=
NM_198156.2:c.340+2259T=	NP_937799.1:n.340+2259T=
XM_011534078.1:c.*17+1425T=	XP_011532380.1:n.*17+1425T=
NM_001354723.1:c.*17+1425T=	NP_001341652.1:n.*17+1425T=
NM_000551.4:c.341-2068T= MANE Select	NP_000542.1:n.341-2068T=
NM_001354723.2:c.*17+1425T=	NP_001341652.1:n.*17+1425T=
NM_198156.3:c.340+2259T=	NP_937799.1:n.340+2259T=