Canonical Allele Identifier: CA1345058549

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146558C= , CM000665.2:g.10146558C=	GRCh38
NC_000003.11:g.10188242C= , CM000665.1:g.10188242C=	GRCh37
NC_000003.10:g.10163242C=	NCBI36
NG_008212.3:g.9924C= , LRG_322:g.9924C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*62C=	ENSP00000512434.1:n.*62C=
ENST00000696143.1:c.600-3229C=	ENSP00000512435.1:n.600-3229C=
ENST00000696153.1:c.385C=	ENSP00000512444.1:p.Leu129=
ENST00000256474.3:c.385C= MANE Select	ENSP00000256474.3:p.Leu129=
ENST00000256474.2:c.385C=	ENSP00000256474.2:p.Leu129=
ENST00000345392.2:c.341-3229C=	ENSP00000344757.2:n.341-3229C=
ENST00000477538.1:n.521C=
NM_000551.3:c.385C= , LRG_322t1:c.385C=	NP_000542.1:p.Leu129=
NM_198156.2:c.341-3229C=	NP_937799.1:n.341-3229C=
XM_011534078.1:c.*62C=	XP_011532380.1:n.*62C=
NM_001354723.1:c.*18-3229C=	NP_001341652.1:n.*18-3229C=
NM_000551.4:c.385C= MANE Select	NP_000542.1:p.Leu129=
NM_001354723.2:c.*18-3229C=	NP_001341652.1:n.*18-3229C=
NM_198156.3:c.341-3229C=	NP_937799.1:n.341-3229C=