Canonical Allele Identifier: CA1345058469

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146537G= , CM000665.2:g.10146537G=	GRCh38
NC_000003.11:g.10188221G= , CM000665.1:g.10188221G=	GRCh37
NC_000003.10:g.10163221G=	NCBI36
NG_008212.3:g.9903G= , LRG_322:g.9903G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*41G=	ENSP00000512434.1:n.*41G=
ENST00000696143.1:c.600-3250G=	ENSP00000512435.1:n.600-3250G=
ENST00000696153.1:c.364G=	ENSP00000512444.1:p.Ala122=
ENST00000256474.3:c.364G= MANE Select	ENSP00000256474.3:p.Ala122=
ENST00000256474.2:c.364G=	ENSP00000256474.2:p.Ala122=
ENST00000345392.2:c.341-3250G=	ENSP00000344757.2:n.341-3250G=
ENST00000477538.1:n.500G=
NM_000551.3:c.364G= , LRG_322t1:c.364G=	NP_000542.1:p.Ala122=
NM_198156.2:c.341-3250G=	NP_937799.1:n.341-3250G=
XM_011534078.1:c.*41G=	XP_011532380.1:n.*41G=
NM_001354723.1:c.*18-3250G=	NP_001341652.1:n.*18-3250G=
NM_000551.4:c.364G= MANE Select	NP_000542.1:p.Ala122=
NM_001354723.2:c.*18-3250G=	NP_001341652.1:n.*18-3250G=
NM_198156.3:c.341-3250G=	NP_937799.1:n.341-3250G=