Canonical Allele Identifier: CA1345062168

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796T= , CM000665.2:g.10149796T=	GRCh38
NC_000003.11:g.10191480T= , CM000665.1:g.10191480T=	GRCh37
NC_000003.10:g.10166480T=	NCBI36
NG_008212.3:g.13162T= , LRG_322:g.13162T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*150T=	ENSP00000512434.1:n.*150T=
ENST00000696143.1:c.609T=	ENSP00000512435.1:n.609T=
ENST00000696153.1:c.584T=	ENSP00000512444.1:p.Leu195=
ENST00000256474.3:c.473T= MANE Select	ENSP00000256474.3:p.Leu158=
ENST00000256474.2:c.473T=	ENSP00000256474.2:p.Leu158=
ENST00000345392.2:c.350T=	ENSP00000344757.2:p.Leu117=
ENST00000477538.1:n.609T=
NM_000551.3:c.473T= , LRG_322t1:c.473T=	NP_000542.1:p.Leu158=
NM_198156.2:c.350T=	NP_937799.1:p.Leu117=
NM_001354723.1:c.*27T=	NP_001341652.1:n.*27T=
NM_000551.4:c.473T= MANE Select	NP_000542.1:p.Leu158=
NM_001354723.2:c.*27T=	NP_001341652.1:n.*27T=
NM_198156.3:c.350T=	NP_937799.1:p.Leu117=