Canonical Allele Identifier: CA1345062911

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149918G= , CM000665.2:g.10149918G=	GRCh38
NC_000003.11:g.10191602G= , CM000665.1:g.10191602G=	GRCh37
NC_000003.10:g.10166602G=	NCBI36
NG_008212.3:g.13284G= , LRG_322:g.13284G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*272G=	ENSP00000512434.1:n.*272G=
ENST00000696143.1:c.731G=	ENSP00000512435.1:n.731G=
ENST00000696153.1:c.706G=	ENSP00000512444.1:p.Glu236=
ENST00000256474.3:c.595G= MANE Select	ENSP00000256474.3:p.Glu199=
ENST00000256474.2:c.595G=	ENSP00000256474.2:p.Glu199=
ENST00000345392.2:c.472G=	ENSP00000344757.2:p.Glu158=
ENST00000477538.1:n.731G=
NM_000551.3:c.595G= , LRG_322t1:c.595G=	NP_000542.1:p.Glu199=
NM_198156.2:c.472G=	NP_937799.1:p.Glu158=
NM_001354723.1:c.*149G=	NP_001341652.1:n.*149G=
NM_000551.4:c.595G= MANE Select	NP_000542.1:p.Glu199=
NM_001354723.2:c.*149G=	NP_001341652.1:n.*149G=
NM_198156.3:c.472G=	NP_937799.1:p.Glu158=