Canonical Allele Identifier: CA1345058723

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146593C= , CM000665.2:g.10146593C=	GRCh38
NC_000003.11:g.10188277C= , CM000665.1:g.10188277C=	GRCh37
NC_000003.10:g.10163277C=	NCBI36
NG_008212.3:g.9959C= , LRG_322:g.9959C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*97C=	ENSP00000512434.1:n.*97C=
ENST00000696143.1:c.600-3194C=	ENSP00000512435.1:n.600-3194C=
ENST00000696153.1:c.420C=	ENSP00000512444.1:p.Leu140=
ENST00000256474.3:c.420C= MANE Select	ENSP00000256474.3:p.Leu140=
ENST00000256474.2:c.420C=	ENSP00000256474.2:p.Leu140=
ENST00000345392.2:c.341-3194C=	ENSP00000344757.2:n.341-3194C=
ENST00000477538.1:n.556C=
NM_000551.3:c.420C= , LRG_322t1:c.420C=	NP_000542.1:p.Leu140=
NM_198156.2:c.341-3194C=	NP_937799.1:n.341-3194C=
XM_011534078.1:c.*97C=	XP_011532380.1:n.*97C=
NM_001354723.1:c.*18-3194C=	NP_001341652.1:n.*18-3194C=
NM_000551.4:c.420C= MANE Select	NP_000542.1:p.Leu140=
NM_001354723.2:c.*18-3194C=	NP_001341652.1:n.*18-3194C=
NM_198156.3:c.341-3194C=	NP_937799.1:n.341-3194C=