Canonical Allele Identifier: CA1345062192

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149798A= , CM000665.2:g.10149798A=	GRCh38
NC_000003.11:g.10191482A= , CM000665.1:g.10191482A=	GRCh37
NC_000003.10:g.10166482A=	NCBI36
NG_008212.3:g.13164A= , LRG_322:g.13164A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*152A=	ENSP00000512434.1:n.*152A=
ENST00000696143.1:c.611A=	ENSP00000512435.1:n.611A=
ENST00000696153.1:c.586A=	ENSP00000512444.1:p.Lys196=
ENST00000256474.3:c.475A= MANE Select	ENSP00000256474.3:p.Lys159=
ENST00000256474.2:c.475A=	ENSP00000256474.2:p.Lys159=
ENST00000345392.2:c.352A=	ENSP00000344757.2:p.Lys118=
ENST00000477538.1:n.611A=
NM_000551.3:c.475A= , LRG_322t1:c.475A=	NP_000542.1:p.Lys159=
NM_198156.2:c.352A=	NP_937799.1:p.Lys118=
NM_001354723.1:c.*29A=	NP_001341652.1:n.*29A=
NM_000551.4:c.475A= MANE Select	NP_000542.1:p.Lys159=
NM_001354723.2:c.*29A=	NP_001341652.1:n.*29A=
NM_198156.3:c.352A=	NP_937799.1:p.Lys118=