Canonical Allele Identifier: CA1345062264

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149809C= , CM000665.2:g.10149809C=	GRCh38
NC_000003.11:g.10191493C= , CM000665.1:g.10191493C=	GRCh37
NC_000003.10:g.10166493C=	NCBI36
NG_008212.3:g.13175C= , LRG_322:g.13175C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*163C=	ENSP00000512434.1:n.*163C=
ENST00000696143.1:c.622C=	ENSP00000512435.1:n.622C=
ENST00000696153.1:c.597C=	ENSP00000512444.1:p.Cys199=
ENST00000256474.3:c.486C= MANE Select	ENSP00000256474.3:p.Cys162=
ENST00000256474.2:c.486C=	ENSP00000256474.2:p.Cys162=
ENST00000345392.2:c.363C=	ENSP00000344757.2:p.Cys121=
ENST00000477538.1:n.622C=
NM_000551.3:c.486C= , LRG_322t1:c.486C=	NP_000542.1:p.Cys162=
NM_198156.2:c.363C=	NP_937799.1:p.Cys121=
NM_001354723.1:c.*40C=	NP_001341652.1:n.*40C=
NM_000551.4:c.486C= MANE Select	NP_000542.1:p.Cys162=
NM_001354723.2:c.*40C=	NP_001341652.1:n.*40C=
NM_198156.3:c.363C=	NP_937799.1:p.Cys121=