Canonical Allele Identifier: CA1345062955

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149922G= , CM000665.2:g.10149922G=	GRCh38
NC_000003.11:g.10191606G= , CM000665.1:g.10191606G=	GRCh37
NC_000003.10:g.10166606G=	NCBI36
NG_008212.3:g.13288G= , LRG_322:g.13288G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*276G=	ENSP00000512434.1:n.*276G=
ENST00000696143.1:c.735G=	ENSP00000512435.1:n.735G=
ENST00000696153.1:c.710G=	ENSP00000512444.1:p.Arg237=
ENST00000256474.3:c.599G= MANE Select	ENSP00000256474.3:p.Arg200=
ENST00000256474.2:c.599G=	ENSP00000256474.2:p.Arg200=
ENST00000345392.2:c.476G=	ENSP00000344757.2:p.Arg159=
ENST00000477538.1:n.735G=
NM_000551.3:c.599G= , LRG_322t1:c.599G=	NP_000542.1:p.Arg200=
NM_198156.2:c.476G=	NP_937799.1:p.Arg159=
NM_001354723.1:c.*153G=	NP_001341652.1:n.*153G=
NM_000551.4:c.599G= MANE Select	NP_000542.1:p.Arg200=
NM_001354723.2:c.*153G=	NP_001341652.1:n.*153G=
NM_198156.3:c.476G=	NP_937799.1:p.Arg159=