Canonical Allele Identifier: CA1345063016

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149935G= , CM000665.2:g.10149935G=	GRCh38
NC_000003.11:g.10191619G= , CM000665.1:g.10191619G=	GRCh37
NC_000003.10:g.10166619G=	NCBI36
NG_008212.3:g.13301G= , LRG_322:g.13301G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*289G=	ENSP00000512434.1:n.*289G=
ENST00000696143.1:c.748G=	ENSP00000512435.1:n.748G=
ENST00000696153.1:c.723G=	ENSP00000512444.1:p.Glu241=
ENST00000256474.3:c.612G= MANE Select	ENSP00000256474.3:p.Glu204=
ENST00000256474.2:c.612G=	ENSP00000256474.2:p.Glu204=
ENST00000345392.2:c.489G=	ENSP00000344757.2:p.Glu163=
ENST00000477538.1:n.748G=
NM_000551.3:c.612G= , LRG_322t1:c.612G=	NP_000542.1:p.Glu204=
NM_198156.2:c.489G=	NP_937799.1:p.Glu163=
NM_001354723.1:c.*166G=	NP_001341652.1:n.*166G=
NM_000551.4:c.612G= MANE Select	NP_000542.1:p.Glu204=
NM_001354723.2:c.*166G=	NP_001341652.1:n.*166G=
NM_198156.3:c.489G=	NP_937799.1:p.Glu163=