Canonical Allele Identifier: CA1345062118

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149785A= , CM000665.2:g.10149785A=	GRCh38
NC_000003.11:g.10191469A= , CM000665.1:g.10191469A=	GRCh37
NC_000003.10:g.10166469A=	NCBI36
NG_008212.3:g.13151A= , LRG_322:g.13151A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.464-2A= MANE Select	NP_000542.1:n.464-2A=
ENST00000256474.3:c.464-2A= MANE Select	ENSP00000256474.3:n.464-2A=
NM_000551.3:c.464-2A= , LRG_322t1:c.464-2A=	NP_000542.1:n.464-2A=
NM_001354723.1:c.*18-2A=	NP_001341652.1:n.*18-2A=
NM_001354723.2:c.*18-2A=	NP_001341652.1:n.*18-2A=
NM_198156.2:c.341-2A=	NP_937799.1:n.341-2A=
NM_198156.3:c.341-2A=	NP_937799.1:n.341-2A=
ENST00000256474.2:c.464-2A=	ENSP00000256474.2:n.464-2A=
ENST00000345392.2:c.341-2A=	ENSP00000344757.2:n.341-2A=
ENST00000477538.1:n.600-2A=
ENST00000696142.1:c.*141-2A=	ENSP00000512434.1:n.*141-2A=
ENST00000696143.1:c.600-2A=	ENSP00000512435.1:n.600-2A=
ENST00000696153.1:c.575-2A=	ENSP00000512444.1:n.575-2A=