Canonical Allele Identifier: CA1345058475

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146544C= , CM000665.2:g.10146544C=	GRCh38
NC_000003.11:g.10188228C= , CM000665.1:g.10188228C=	GRCh37
NC_000003.10:g.10163228C=	NCBI36
NG_008212.3:g.9910C= , LRG_322:g.9910C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.371C= MANE Select	NP_000542.1:p.Thr124=
ENST00000256474.3:c.371C= MANE Select	ENSP00000256474.3:p.Thr124=
NM_000551.3:c.371C= , LRG_322t1:c.371C=	NP_000542.1:p.Thr124=
NM_001354723.1:c.*18-3243C=	NP_001341652.1:n.*18-3243C=
NM_001354723.2:c.*18-3243C=	NP_001341652.1:n.*18-3243C=
NM_198156.2:c.341-3243C=	NP_937799.1:n.341-3243C=
NM_198156.3:c.341-3243C=	NP_937799.1:n.341-3243C=
ENST00000256474.2:c.371C=	ENSP00000256474.2:p.Thr124=
ENST00000345392.2:c.341-3243C=	ENSP00000344757.2:n.341-3243C=
ENST00000477538.1:n.507C=
ENST00000696142.1:c.*48C=	ENSP00000512434.1:n.*48C=
ENST00000696143.1:c.600-3243C=	ENSP00000512435.1:n.600-3243C=
ENST00000696153.1:c.371C=	ENSP00000512444.1:p.Thr124=
XM_011534078.1:c.*48C=	XP_011532380.1:n.*48C=