Canonical Allele Identifier: CA1345062339

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149822C= , CM000665.2:g.10149822C=	GRCh38
NC_000003.11:g.10191506C= , CM000665.1:g.10191506C=	GRCh37
NC_000003.10:g.10166506C=	NCBI36
NG_008212.3:g.13188C= , LRG_322:g.13188C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.499C= MANE Select	NP_000542.1:p.Arg167=
ENST00000256474.3:c.499C= MANE Select	ENSP00000256474.3:p.Arg167=
NM_000551.3:c.499C= , LRG_322t1:c.499C=	NP_000542.1:p.Arg167=
NM_001354723.1:c.*53C=	NP_001341652.1:n.*53C=
NM_001354723.2:c.*53C=	NP_001341652.1:n.*53C=
NM_198156.2:c.376C=	NP_937799.1:p.Arg126=
NM_198156.3:c.376C=	NP_937799.1:p.Arg126=
ENST00000256474.2:c.499C=	ENSP00000256474.2:p.Arg167=
ENST00000345392.2:c.376C=	ENSP00000344757.2:p.Arg126=
ENST00000477538.1:n.635C=
ENST00000696142.1:c.*176C=	ENSP00000512434.1:n.*176C=
ENST00000696143.1:c.635C=	ENSP00000512435.1:n.635C=
ENST00000696153.1:c.610C=	ENSP00000512444.1:p.Arg204=