Canonical Allele Identifier: CA1345062532

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149858G= , CM000665.2:g.10149858G=	GRCh38
NC_000003.11:g.10191542G= , CM000665.1:g.10191542G=	GRCh37
NC_000003.10:g.10166542G=	NCBI36
NG_008212.3:g.13224G= , LRG_322:g.13224G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*212G=	ENSP00000512434.1:n.*212G=
ENST00000696143.1:c.671G=	ENSP00000512435.1:n.671G=
ENST00000696153.1:c.646G=	ENSP00000512444.1:p.Asp216=
ENST00000256474.3:c.535G= MANE Select	ENSP00000256474.3:p.Asp179=
ENST00000256474.2:c.535G=	ENSP00000256474.2:p.Asp179=
ENST00000345392.2:c.412G=	ENSP00000344757.2:p.Asp138=
ENST00000477538.1:n.671G=
NM_000551.3:c.535G= , LRG_322t1:c.535G=	NP_000542.1:p.Asp179=
NM_198156.2:c.412G=	NP_937799.1:p.Asp138=
NM_001354723.1:c.*89G=	NP_001341652.1:n.*89G=
NM_000551.4:c.535G= MANE Select	NP_000542.1:p.Asp179=
NM_001354723.2:c.*89G=	NP_001341652.1:n.*89G=
NM_198156.3:c.412G=	NP_937799.1:p.Asp138=