Canonical Allele Identifier: CA1345062206

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149801G= , CM000665.2:g.10149801G=	GRCh38
NC_000003.11:g.10191485G= , CM000665.1:g.10191485G=	GRCh37
NC_000003.10:g.10166485G=	NCBI36
NG_008212.3:g.13167G= , LRG_322:g.13167G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*155G=	ENSP00000512434.1:n.*155G=
ENST00000696143.1:c.614G=	ENSP00000512435.1:n.614G=
ENST00000696153.1:c.589G=	ENSP00000512444.1:p.Glu197=
ENST00000256474.3:c.478G= MANE Select	ENSP00000256474.3:p.Glu160=
ENST00000256474.2:c.478G=	ENSP00000256474.2:p.Glu160=
ENST00000345392.2:c.355G=	ENSP00000344757.2:p.Glu119=
ENST00000477538.1:n.614G=
NM_000551.3:c.478G= , LRG_322t1:c.478G=	NP_000542.1:p.Glu160=
NM_198156.2:c.355G=	NP_937799.1:p.Glu119=
NM_001354723.1:c.*32G=	NP_001341652.1:n.*32G=
NM_000551.4:c.478G= MANE Select	NP_000542.1:p.Glu160=
NM_001354723.2:c.*32G=	NP_001341652.1:n.*32G=
NM_198156.3:c.355G=	NP_937799.1:p.Glu119=