Canonical Allele Identifier: CA1345063120

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149957G= , CM000665.2:g.10149957G=	GRCh38
NC_000003.11:g.10191641G= , CM000665.1:g.10191641G=	GRCh37
NC_000003.10:g.10166641G=	NCBI36
NG_008212.3:g.13323G= , LRG_322:g.13323G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*311G=	ENSP00000512434.1:n.*311G=
ENST00000696143.1:c.770G=	ENSP00000512435.1:n.770G=
ENST00000696153.1:c.745G=	ENSP00000512444.1:p.Gly249=
ENST00000256474.3:c.634G= MANE Select	ENSP00000256474.3:p.Gly212=
ENST00000256474.2:c.634G=	ENSP00000256474.2:p.Gly212=
ENST00000345392.2:c.511G=	ENSP00000344757.2:p.Gly171=
ENST00000477538.1:n.770G=
NM_000551.3:c.634G= , LRG_322t1:c.634G=	NP_000542.1:p.Gly212=
NM_198156.2:c.511G=	NP_937799.1:p.Gly171=
NM_001354723.1:c.*188G=	NP_001341652.1:n.*188G=
NM_000551.4:c.634G= MANE Select	NP_000542.1:p.Gly212=
NM_001354723.2:c.*188G=	NP_001341652.1:n.*188G=
NM_198156.3:c.511G=	NP_937799.1:p.Gly171=