Canonical Allele Identifier: CA1345058895

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146631T= , CM000665.2:g.10146631T=	GRCh38
NC_000003.11:g.10188315T= , CM000665.1:g.10188315T=	GRCh37
NC_000003.10:g.10163315T=	NCBI36
NG_008212.3:g.9997T= , LRG_322:g.9997T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*135T=	ENSP00000512434.1:n.*135T=
ENST00000696143.1:c.600-3156T=	ENSP00000512435.1:n.600-3156T=
ENST00000696153.1:c.458T=	ENSP00000512444.1:p.Leu153=
ENST00000256474.3:c.458T= MANE Select	ENSP00000256474.3:p.Leu153=
ENST00000256474.2:c.458T=	ENSP00000256474.2:p.Leu153=
ENST00000345392.2:c.341-3156T=	ENSP00000344757.2:n.341-3156T=
ENST00000477538.1:n.594T=
NM_000551.3:c.458T= , LRG_322t1:c.458T=	NP_000542.1:p.Leu153=
NM_198156.2:c.341-3156T=	NP_937799.1:n.341-3156T=
NM_001354723.1:c.*18-3156T=	NP_001341652.1:n.*18-3156T=
NM_000551.4:c.458T= MANE Select	NP_000542.1:p.Leu153=
NM_001354723.2:c.*18-3156T=	NP_001341652.1:n.*18-3156T=
NM_198156.3:c.341-3156T=	NP_937799.1:n.341-3156T=