Canonical Allele Identifier: CA1345062653

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149879G= , CM000665.2:g.10149879G=	GRCh38
NC_000003.11:g.10191563G= , CM000665.1:g.10191563G=	GRCh37
NC_000003.10:g.10166563G=	NCBI36
NG_008212.3:g.13245G= , LRG_322:g.13245G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*233G=	ENSP00000512434.1:n.*233G=
ENST00000696143.1:c.692G=	ENSP00000512435.1:n.692G=
ENST00000696153.1:c.667G=	ENSP00000512444.1:p.Glu223=
ENST00000256474.3:c.556G= MANE Select	ENSP00000256474.3:p.Glu186=
ENST00000256474.2:c.556G=	ENSP00000256474.2:p.Glu186=
ENST00000345392.2:c.433G=	ENSP00000344757.2:p.Glu145=
ENST00000477538.1:n.692G=
NM_000551.3:c.556G= , LRG_322t1:c.556G=	NP_000542.1:p.Glu186=
NM_198156.2:c.433G=	NP_937799.1:p.Glu145=
NM_001354723.1:c.*110G=	NP_001341652.1:n.*110G=
NM_000551.4:c.556G= MANE Select	NP_000542.1:p.Glu186=
NM_001354723.2:c.*110G=	NP_001341652.1:n.*110G=
NM_198156.3:c.433G=	NP_937799.1:p.Glu145=