Canonical Allele Identifier: CA1345062607

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149871C= , CM000665.2:g.10149871C=	GRCh38
NC_000003.11:g.10191555C= , CM000665.1:g.10191555C=	GRCh37
NC_000003.10:g.10166555C=	NCBI36
NG_008212.3:g.13237C= , LRG_322:g.13237C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.548C= MANE Select	NP_000542.1:p.Ser183=
ENST00000256474.3:c.548C= MANE Select	ENSP00000256474.3:p.Ser183=
NM_000551.3:c.548C= , LRG_322t1:c.548C=	NP_000542.1:p.Ser183=
NM_001354723.1:c.*102C=	NP_001341652.1:n.*102C=
NM_001354723.2:c.*102C=	NP_001341652.1:n.*102C=
NM_198156.2:c.425C=	NP_937799.1:p.Ser142=
NM_198156.3:c.425C=	NP_937799.1:p.Ser142=
ENST00000256474.2:c.548C=	ENSP00000256474.2:p.Ser183=
ENST00000345392.2:c.425C=	ENSP00000344757.2:p.Ser142=
ENST00000477538.1:n.684C=
ENST00000696142.1:c.*225C=	ENSP00000512434.1:n.*225C=
ENST00000696143.1:c.684C=	ENSP00000512435.1:n.684C=
ENST00000696153.1:c.659C=	ENSP00000512444.1:p.Ser220=