Canonical Allele Identifier: CA1345058818

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146612A= , CM000665.2:g.10146612A=	GRCh38
NC_000003.11:g.10188296A= , CM000665.1:g.10188296A=	GRCh37
NC_000003.10:g.10163296A=	NCBI36
NG_008212.3:g.9978A= , LRG_322:g.9978A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*116A=	ENSP00000512434.1:n.*116A=
ENST00000696143.1:c.600-3175A=	ENSP00000512435.1:n.600-3175A=
ENST00000696153.1:c.439A=	ENSP00000512444.1:p.Ile147=
ENST00000256474.3:c.439A= MANE Select	ENSP00000256474.3:p.Ile147=
ENST00000256474.2:c.439A=	ENSP00000256474.2:p.Ile147=
ENST00000345392.2:c.341-3175A=	ENSP00000344757.2:n.341-3175A=
ENST00000477538.1:n.575A=
NM_000551.3:c.439A= , LRG_322t1:c.439A=	NP_000542.1:p.Ile147=
NM_198156.2:c.341-3175A=	NP_937799.1:n.341-3175A=
NM_001354723.1:c.*18-3175A=	NP_001341652.1:n.*18-3175A=
NM_000551.4:c.439A= MANE Select	NP_000542.1:p.Ile147=
NM_001354723.2:c.*18-3175A=	NP_001341652.1:n.*18-3175A=
NM_198156.3:c.341-3175A=	NP_937799.1:n.341-3175A=