Canonical Allele Identifier: CA1345062983

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149929A= , CM000665.2:g.10149929A=	GRCh38
NC_000003.11:g.10191613A= , CM000665.1:g.10191613A=	GRCh37
NC_000003.10:g.10166613A=	NCBI36
NG_008212.3:g.13295A= , LRG_322:g.13295A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*283A=	ENSP00000512434.1:n.*283A=
ENST00000696143.1:c.742A=	ENSP00000512435.1:n.742A=
ENST00000696153.1:c.717A=	ENSP00000512444.1:p.Thr239=
ENST00000256474.3:c.606A= MANE Select	ENSP00000256474.3:p.Thr202=
ENST00000256474.2:c.606A=	ENSP00000256474.2:p.Thr202=
ENST00000345392.2:c.483A=	ENSP00000344757.2:p.Thr161=
ENST00000477538.1:n.742A=
NM_000551.3:c.606A= , LRG_322t1:c.606A=	NP_000542.1:p.Thr202=
NM_198156.2:c.483A=	NP_937799.1:p.Thr161=
NM_001354723.1:c.*160A=	NP_001341652.1:n.*160A=
NM_000551.4:c.606A= MANE Select	NP_000542.1:p.Thr202=
NM_001354723.2:c.*160A=	NP_001341652.1:n.*160A=
NM_198156.3:c.483A=	NP_937799.1:p.Thr161=