Canonical Allele Identifier: CA1345062735

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149896C= , CM000665.2:g.10149896C=	GRCh38
NC_000003.11:g.10191580C= , CM000665.1:g.10191580C=	GRCh37
NC_000003.10:g.10166580C=	NCBI36
NG_008212.3:g.13262C= , LRG_322:g.13262C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*250C=	ENSP00000512434.1:n.*250C=
ENST00000696143.1:c.709C=	ENSP00000512435.1:n.709C=
ENST00000696153.1:c.684C=	ENSP00000512444.1:p.His228=
ENST00000256474.3:c.573C= MANE Select	ENSP00000256474.3:p.His191=
ENST00000256474.2:c.573C=	ENSP00000256474.2:p.His191=
ENST00000345392.2:c.450C=	ENSP00000344757.2:p.His150=
ENST00000477538.1:n.709C=
NM_000551.3:c.573C= , LRG_322t1:c.573C=	NP_000542.1:p.His191=
NM_198156.2:c.450C=	NP_937799.1:p.His150=
NM_001354723.1:c.*127C=	NP_001341652.1:n.*127C=
NM_000551.4:c.573C= MANE Select	NP_000542.1:p.His191=
NM_001354723.2:c.*127C=	NP_001341652.1:n.*127C=
NM_198156.3:c.450C=	NP_937799.1:p.His150=