Canonical Allele Identifier: CA1345058474

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146543A= , CM000665.2:g.10146543A=	GRCh38
NC_000003.11:g.10188227A= , CM000665.1:g.10188227A=	GRCh37
NC_000003.10:g.10163227A=	NCBI36
NG_008212.3:g.9909A= , LRG_322:g.9909A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*47A=	ENSP00000512434.1:n.*47A=
ENST00000696143.1:c.600-3244A=	ENSP00000512435.1:n.600-3244A=
ENST00000696153.1:c.370A=	ENSP00000512444.1:p.Thr124=
ENST00000256474.3:c.370A= MANE Select	ENSP00000256474.3:p.Thr124=
ENST00000256474.2:c.370A=	ENSP00000256474.2:p.Thr124=
ENST00000345392.2:c.341-3244A=	ENSP00000344757.2:n.341-3244A=
ENST00000477538.1:n.506A=
NM_000551.3:c.370A= , LRG_322t1:c.370A=	NP_000542.1:p.Thr124=
NM_198156.2:c.341-3244A=	NP_937799.1:n.341-3244A=
XM_011534078.1:c.*47A=	XP_011532380.1:n.*47A=
NM_001354723.1:c.*18-3244A=	NP_001341652.1:n.*18-3244A=
NM_000551.4:c.370A= MANE Select	NP_000542.1:p.Thr124=
NM_001354723.2:c.*18-3244A=	NP_001341652.1:n.*18-3244A=
NM_198156.3:c.341-3244A=	NP_937799.1:n.341-3244A=