Canonical Allele Identifier: CA1345063141

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149964G= , CM000665.2:g.10149964G=	GRCh38
NC_000003.11:g.10191648G= , CM000665.1:g.10191648G=	GRCh37
NC_000003.10:g.10166648G=	NCBI36
NG_008212.3:g.13330G= , LRG_322:g.13330G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*318G=	ENSP00000512434.1:n.*318G=
ENST00000696143.1:c.777G=	ENSP00000512435.1:n.777G=
ENST00000696153.1:c.752G=	ENSP00000512444.1:p.Ter251=
ENST00000256474.3:c.641G= MANE Select	ENSP00000256474.3:p.Ter214=
ENST00000256474.2:c.641G=	ENSP00000256474.2:p.Ter214=
ENST00000345392.2:c.518G=	ENSP00000344757.2:p.Ter173=
ENST00000477538.1:n.777G=
NM_000551.3:c.641G= , LRG_322t1:c.641G=	NP_000542.1:p.Ter214=
NM_198156.2:c.518G=	NP_937799.1:p.Ter173=
NM_001354723.1:c.*195G=	NP_001341652.1:n.*195G=
NM_000551.4:c.641G= MANE Select	NP_000542.1:p.Ter214=
NM_001354723.2:c.*195G=	NP_001341652.1:n.*195G=
NM_198156.3:c.518G=	NP_937799.1:p.Ter173=