Canonical Allele Identifier: CA1345058455

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146528T= , CM000665.2:g.10146528T=	GRCh38
NC_000003.11:g.10188212T= , CM000665.1:g.10188212T=	GRCh37
NC_000003.10:g.10163212T=	NCBI36
NG_008212.3:g.9894T= , LRG_322:g.9894T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*32T=	ENSP00000512434.1:n.*32T=
ENST00000696143.1:c.600-3259T=	ENSP00000512435.1:n.600-3259T=
ENST00000696153.1:c.355T=	ENSP00000512444.1:p.Phe119=
ENST00000256474.3:c.355T= MANE Select	ENSP00000256474.3:p.Phe119=
ENST00000256474.2:c.355T=	ENSP00000256474.2:p.Phe119=
ENST00000345392.2:c.341-3259T=	ENSP00000344757.2:n.341-3259T=
ENST00000477538.1:n.491T=
NM_000551.3:c.355T= , LRG_322t1:c.355T=	NP_000542.1:p.Phe119=
NM_198156.2:c.341-3259T=	NP_937799.1:n.341-3259T=
XM_011534078.1:c.*32T=	XP_011532380.1:n.*32T=
NM_001354723.1:c.*18-3259T=	NP_001341652.1:n.*18-3259T=
NM_000551.4:c.355T= MANE Select	NP_000542.1:p.Phe119=
NM_001354723.2:c.*18-3259T=	NP_001341652.1:n.*18-3259T=
NM_198156.3:c.341-3259T=	NP_937799.1:n.341-3259T=