Canonical Allele Identifier: CA1345062235

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149805G= , CM000665.2:g.10149805G=	GRCh38
NC_000003.11:g.10191489G= , CM000665.1:g.10191489G=	GRCh37
NC_000003.10:g.10166489G=	NCBI36
NG_008212.3:g.13171G= , LRG_322:g.13171G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*159G=	ENSP00000512434.1:n.*159G=
ENST00000696143.1:c.618G=	ENSP00000512435.1:n.618G=
ENST00000696153.1:c.593G=	ENSP00000512444.1:p.Arg198=
ENST00000256474.3:c.482G= MANE Select	ENSP00000256474.3:p.Arg161=
ENST00000256474.2:c.482G=	ENSP00000256474.2:p.Arg161=
ENST00000345392.2:c.359G=	ENSP00000344757.2:p.Arg120=
ENST00000477538.1:n.618G=
NM_000551.3:c.482G= , LRG_322t1:c.482G=	NP_000542.1:p.Arg161=
NM_198156.2:c.359G=	NP_937799.1:p.Arg120=
NM_001354723.1:c.*36G=	NP_001341652.1:n.*36G=
NM_000551.4:c.482G= MANE Select	NP_000542.1:p.Arg161=
NM_001354723.2:c.*36G=	NP_001341652.1:n.*36G=
NM_198156.3:c.359G=	NP_937799.1:p.Arg120=