Canonical Allele Identifier: CA1345063451

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150256T= , CM000665.2:g.10150256T=	GRCh38
NC_000003.11:g.10191940T= , CM000665.1:g.10191940T=	GRCh37
NC_000003.10:g.10166940T=	NCBI36
NG_008212.3:g.13622T= , LRG_322:g.13622T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*610T=	ENSP00000512434.1:n.*610T=
ENST00000696143.1:c.1069T=	ENSP00000512435.1:n.1069T=
ENST00000696153.1:c.*291T=	ENSP00000512444.1:n.*291T=
ENST00000256474.3:c.*291T= MANE Select	ENSP00000256474.3:n.*291T=
ENST00000256474.2:c.*291T=	ENSP00000256474.2:n.*291T=
ENST00000345392.2:c.*291T=	ENSP00000344757.2:n.*291T=
NM_000551.3:c.*291T= , LRG_322t1:c.*291T=	NP_000542.1:n.*291T=
NM_198156.2:c.*291T=	NP_937799.1:n.*291T=
NM_001354723.1:c.*487T=	NP_001341652.1:n.*487T=
NM_000551.4:c.*291T= MANE Select	NP_000542.1:n.*291T=
NM_001354723.2:c.*487T=	NP_001341652.1:n.*487T=
NM_198156.3:c.*291T=	NP_937799.1:n.*291T=