Canonical Allele Identifier: CA1345062814

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149906C= , CM000665.2:g.10149906C=	GRCh38
NC_000003.11:g.10191590C= , CM000665.1:g.10191590C=	GRCh37
NC_000003.10:g.10166590C=	NCBI36
NG_008212.3:g.13272C= , LRG_322:g.13272C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*260C=	ENSP00000512434.1:n.*260C=
ENST00000696143.1:c.719C=	ENSP00000512435.1:n.719C=
ENST00000696153.1:c.694C=	ENSP00000512444.1:p.Gln232=
ENST00000256474.3:c.583C= MANE Select	ENSP00000256474.3:p.Gln195=
ENST00000256474.2:c.583C=	ENSP00000256474.2:p.Gln195=
ENST00000345392.2:c.460C=	ENSP00000344757.2:p.Gln154=
ENST00000477538.1:n.719C=
NM_000551.3:c.583C= , LRG_322t1:c.583C=	NP_000542.1:p.Gln195=
NM_198156.2:c.460C=	NP_937799.1:p.Gln154=
NM_001354723.1:c.*137C=	NP_001341652.1:n.*137C=
NM_000551.4:c.583C= MANE Select	NP_000542.1:p.Gln195=
NM_001354723.2:c.*137C=	NP_001341652.1:n.*137C=
NM_198156.3:c.460C=	NP_937799.1:p.Gln154=