Canonical Allele Identifier: CA1345058462

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146531A= , CM000665.2:g.10146531A=	GRCh38
NC_000003.11:g.10188215A= , CM000665.1:g.10188215A=	GRCh37
NC_000003.10:g.10163215A=	NCBI36
NG_008212.3:g.9897A= , LRG_322:g.9897A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*35A=	ENSP00000512434.1:n.*35A=
ENST00000696143.1:c.600-3256A=	ENSP00000512435.1:n.600-3256A=
ENST00000696153.1:c.358A=	ENSP00000512444.1:p.Arg120=
ENST00000256474.3:c.358A= MANE Select	ENSP00000256474.3:p.Arg120=
ENST00000256474.2:c.358A=	ENSP00000256474.2:p.Arg120=
ENST00000345392.2:c.341-3256A=	ENSP00000344757.2:n.341-3256A=
ENST00000477538.1:n.494A=
NM_000551.3:c.358A= , LRG_322t1:c.358A=	NP_000542.1:p.Arg120=
NM_198156.2:c.341-3256A=	NP_937799.1:n.341-3256A=
XM_011534078.1:c.*35A=	XP_011532380.1:n.*35A=
NM_001354723.1:c.*18-3256A=	NP_001341652.1:n.*18-3256A=
NM_000551.4:c.358A= MANE Select	NP_000542.1:p.Arg120=
NM_001354723.2:c.*18-3256A=	NP_001341652.1:n.*18-3256A=
NM_198156.3:c.341-3256A=	NP_937799.1:n.341-3256A=