Canonical Allele Identifier: CA1345062660

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149881A= , CM000665.2:g.10149881A=	GRCh38
NC_000003.11:g.10191565A= , CM000665.1:g.10191565A=	GRCh37
NC_000003.10:g.10166565A=	NCBI36
NG_008212.3:g.13247A= , LRG_322:g.13247A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*235A=	ENSP00000512434.1:n.*235A=
ENST00000696143.1:c.694A=	ENSP00000512435.1:n.694A=
ENST00000696153.1:c.669A=	ENSP00000512444.1:p.Glu223=
ENST00000256474.3:c.558A= MANE Select	ENSP00000256474.3:p.Glu186=
ENST00000256474.2:c.558A=	ENSP00000256474.2:p.Glu186=
ENST00000345392.2:c.435A=	ENSP00000344757.2:p.Glu145=
ENST00000477538.1:n.694A=
NM_000551.3:c.558A= , LRG_322t1:c.558A=	NP_000542.1:p.Glu186=
NM_198156.2:c.435A=	NP_937799.1:p.Glu145=
NM_001354723.1:c.*112A=	NP_001341652.1:n.*112A=
NM_000551.4:c.558A= MANE Select	NP_000542.1:p.Glu186=
NM_001354723.2:c.*112A=	NP_001341652.1:n.*112A=
NM_198156.3:c.435A=	NP_937799.1:p.Glu145=