Canonical Allele Identifier: CA1345062258

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149808G= , CM000665.2:g.10149808G=	GRCh38
NC_000003.11:g.10191492G= , CM000665.1:g.10191492G=	GRCh37
NC_000003.10:g.10166492G=	NCBI36
NG_008212.3:g.13174G= , LRG_322:g.13174G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.485G= MANE Select	NP_000542.1:p.Cys162=
ENST00000256474.3:c.485G= MANE Select	ENSP00000256474.3:p.Cys162=
NM_000551.3:c.485G= , LRG_322t1:c.485G=	NP_000542.1:p.Cys162=
NM_001354723.1:c.*39G=	NP_001341652.1:n.*39G=
NM_001354723.2:c.*39G=	NP_001341652.1:n.*39G=
NM_198156.2:c.362G=	NP_937799.1:p.Cys121=
NM_198156.3:c.362G=	NP_937799.1:p.Cys121=
ENST00000256474.2:c.485G=	ENSP00000256474.2:p.Cys162=
ENST00000345392.2:c.362G=	ENSP00000344757.2:p.Cys121=
ENST00000477538.1:n.621G=
ENST00000696142.1:c.*162G=	ENSP00000512434.1:n.*162G=
ENST00000696143.1:c.621G=	ENSP00000512435.1:n.621G=
ENST00000696153.1:c.596G=	ENSP00000512444.1:p.Cys199=