Canonical Allele Identifier: CA1345062311

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149816G= , CM000665.2:g.10149816G=	GRCh38
NC_000003.11:g.10191500G= , CM000665.1:g.10191500G=	GRCh37
NC_000003.10:g.10166500G=	NCBI36
NG_008212.3:g.13182G= , LRG_322:g.13182G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*170G=	ENSP00000512434.1:n.*170G=
ENST00000696143.1:c.629G=	ENSP00000512435.1:n.629G=
ENST00000696153.1:c.604G=	ENSP00000512444.1:p.Val202=
ENST00000256474.3:c.493G= MANE Select	ENSP00000256474.3:p.Val165=
ENST00000256474.2:c.493G=	ENSP00000256474.2:p.Val165=
ENST00000345392.2:c.370G=	ENSP00000344757.2:p.Val124=
ENST00000477538.1:n.629G=
NM_000551.3:c.493G= , LRG_322t1:c.493G=	NP_000542.1:p.Val165=
NM_198156.2:c.370G=	NP_937799.1:p.Val124=
NM_001354723.1:c.*47G=	NP_001341652.1:n.*47G=
NM_000551.4:c.493G= MANE Select	NP_000542.1:p.Val165=
NM_001354723.2:c.*47G=	NP_001341652.1:n.*47G=
NM_198156.3:c.370G=	NP_937799.1:p.Val124=