Canonical Allele Identifier: CA1345062249

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149807T= , CM000665.2:g.10149807T=	GRCh38
NC_000003.11:g.10191491T= , CM000665.1:g.10191491T=	GRCh37
NC_000003.10:g.10166491T=	NCBI36
NG_008212.3:g.13173T= , LRG_322:g.13173T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*161T=	ENSP00000512434.1:n.*161T=
ENST00000696143.1:c.620T=	ENSP00000512435.1:n.620T=
ENST00000696153.1:c.595T=	ENSP00000512444.1:p.Cys199=
ENST00000256474.3:c.484T= MANE Select	ENSP00000256474.3:p.Cys162=
ENST00000256474.2:c.484T=	ENSP00000256474.2:p.Cys162=
ENST00000345392.2:c.361T=	ENSP00000344757.2:p.Cys121=
ENST00000477538.1:n.620T=
NM_000551.3:c.484T= , LRG_322t1:c.484T=	NP_000542.1:p.Cys162=
NM_198156.2:c.361T=	NP_937799.1:p.Cys121=
NM_001354723.1:c.*38T=	NP_001341652.1:n.*38T=
NM_000551.4:c.484T= MANE Select	NP_000542.1:p.Cys162=
NM_001354723.2:c.*38T=	NP_001341652.1:n.*38T=
NM_198156.3:c.361T=	NP_937799.1:p.Cys121=