Canonical Allele Identifier: CA1345062906

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149917G= , CM000665.2:g.10149917G=	GRCh38
NC_000003.11:g.10191601G= , CM000665.1:g.10191601G=	GRCh37
NC_000003.10:g.10166601G=	NCBI36
NG_008212.3:g.13283G= , LRG_322:g.13283G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*271G=	ENSP00000512434.1:n.*271G=
ENST00000696143.1:c.730G=	ENSP00000512435.1:n.730G=
ENST00000696153.1:c.705G=	ENSP00000512444.1:p.Leu235=
ENST00000256474.3:c.594G= MANE Select	ENSP00000256474.3:p.Leu198=
ENST00000256474.2:c.594G=	ENSP00000256474.2:p.Leu198=
ENST00000345392.2:c.471G=	ENSP00000344757.2:p.Leu157=
ENST00000477538.1:n.730G=
NM_000551.3:c.594G= , LRG_322t1:c.594G=	NP_000542.1:p.Leu198=
NM_198156.2:c.471G=	NP_937799.1:p.Leu157=
NM_001354723.1:c.*148G=	NP_001341652.1:n.*148G=
NM_000551.4:c.594G= MANE Select	NP_000542.1:p.Leu198=
NM_001354723.2:c.*148G=	NP_001341652.1:n.*148G=
NM_198156.3:c.471G=	NP_937799.1:p.Leu157=