Canonical Allele Identifier: CA1345062201

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149800A= , CM000665.2:g.10149800A=	GRCh38
NC_000003.11:g.10191484A= , CM000665.1:g.10191484A=	GRCh37
NC_000003.10:g.10166484A=	NCBI36
NG_008212.3:g.13166A= , LRG_322:g.13166A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*154A=	ENSP00000512434.1:n.*154A=
ENST00000696143.1:c.613A=	ENSP00000512435.1:n.613A=
ENST00000696153.1:c.588A=	ENSP00000512444.1:p.Lys196=
ENST00000256474.3:c.477A= MANE Select	ENSP00000256474.3:p.Lys159=
ENST00000256474.2:c.477A=	ENSP00000256474.2:p.Lys159=
ENST00000345392.2:c.354A=	ENSP00000344757.2:p.Lys118=
ENST00000477538.1:n.613A=
NM_000551.3:c.477A= , LRG_322t1:c.477A=	NP_000542.1:p.Lys159=
NM_198156.2:c.354A=	NP_937799.1:p.Lys118=
NM_001354723.1:c.*31A=	NP_001341652.1:n.*31A=
NM_000551.4:c.477A= MANE Select	NP_000542.1:p.Lys159=
NM_001354723.2:c.*31A=	NP_001341652.1:n.*31A=
NM_198156.3:c.354A=	NP_937799.1:p.Lys118=