Canonical Allele Identifier: CA1345062180

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149797G= , CM000665.2:g.10149797G=	GRCh38
NC_000003.11:g.10191481G= , CM000665.1:g.10191481G=	GRCh37
NC_000003.10:g.10166481G=	NCBI36
NG_008212.3:g.13163G= , LRG_322:g.13163G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*151G=	ENSP00000512434.1:n.*151G=
ENST00000696143.1:c.610G=	ENSP00000512435.1:n.610G=
ENST00000696153.1:c.585G=	ENSP00000512444.1:p.Leu195=
ENST00000256474.3:c.474G= MANE Select	ENSP00000256474.3:p.Leu158=
ENST00000256474.2:c.474G=	ENSP00000256474.2:p.Leu158=
ENST00000345392.2:c.351G=	ENSP00000344757.2:p.Leu117=
ENST00000477538.1:n.610G=
NM_000551.3:c.474G= , LRG_322t1:c.474G=	NP_000542.1:p.Leu158=
NM_198156.2:c.351G=	NP_937799.1:p.Leu117=
NM_001354723.1:c.*28G=	NP_001341652.1:n.*28G=
NM_000551.4:c.474G= MANE Select	NP_000542.1:p.Leu158=
NM_001354723.2:c.*28G=	NP_001341652.1:n.*28G=
NM_198156.3:c.351G=	NP_937799.1:p.Leu117=