Canonical Allele Identifier: CA1345062807

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149905G= , CM000665.2:g.10149905G=	GRCh38
NC_000003.11:g.10191589G= , CM000665.1:g.10191589G=	GRCh37
NC_000003.10:g.10166589G=	NCBI36
NG_008212.3:g.13271G= , LRG_322:g.13271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*259G=	ENSP00000512434.1:n.*259G=
ENST00000696143.1:c.718G=	ENSP00000512435.1:n.718G=
ENST00000696153.1:c.693G=	ENSP00000512444.1:p.Val231=
ENST00000256474.3:c.582G= MANE Select	ENSP00000256474.3:p.Val194=
ENST00000256474.2:c.582G=	ENSP00000256474.2:p.Val194=
ENST00000345392.2:c.459G=	ENSP00000344757.2:p.Val153=
ENST00000477538.1:n.718G=
NM_000551.3:c.582G= , LRG_322t1:c.582G=	NP_000542.1:p.Val194=
NM_198156.2:c.459G=	NP_937799.1:p.Val153=
NM_001354723.1:c.*136G=	NP_001341652.1:n.*136G=
NM_000551.4:c.582G= MANE Select	NP_000542.1:p.Val194=
NM_001354723.2:c.*136G=	NP_001341652.1:n.*136G=
NM_198156.3:c.459G=	NP_937799.1:p.Val153=