Canonical Allele Identifier: CA1345063247

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150034A= , CM000665.2:g.10150034A=	GRCh38
NC_000003.11:g.10191718A= , CM000665.1:g.10191718A=	GRCh37
NC_000003.10:g.10166718A=	NCBI36
NG_008212.3:g.13400A= , LRG_322:g.13400A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*388A=	ENSP00000512434.1:n.*388A=
ENST00000696143.1:c.847A=	ENSP00000512435.1:n.847A=
ENST00000696153.1:c.*69A=	ENSP00000512444.1:n.*69A=
ENST00000256474.3:c.*69A= MANE Select	ENSP00000256474.3:n.*69A=
ENST00000256474.2:c.*69A=	ENSP00000256474.2:n.*69A=
ENST00000345392.2:c.*69A=	ENSP00000344757.2:n.*69A=
ENST00000477538.1:n.847A=
NM_000551.3:c.*69A= , LRG_322t1:c.*69A=	NP_000542.1:n.*69A=
NM_198156.2:c.*69A=	NP_937799.1:n.*69A=
NM_001354723.1:c.*265A=	NP_001341652.1:n.*265A=
NM_000551.4:c.*69A= MANE Select	NP_000542.1:n.*69A=
NM_001354723.2:c.*265A=	NP_001341652.1:n.*265A=
NM_198156.3:c.*69A=	NP_937799.1:n.*69A=