Canonical Allele Identifier: CA1345062301

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149815G= , CM000665.2:g.10149815G=	GRCh38
NC_000003.11:g.10191499G= , CM000665.1:g.10191499G=	GRCh37
NC_000003.10:g.10166499G=	NCBI36
NG_008212.3:g.13181G= , LRG_322:g.13181G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*169G=	ENSP00000512434.1:n.*169G=
ENST00000696143.1:c.628G=	ENSP00000512435.1:n.628G=
ENST00000696153.1:c.603G=	ENSP00000512444.1:p.Gln201=
ENST00000256474.3:c.492G= MANE Select	ENSP00000256474.3:p.Gln164=
ENST00000256474.2:c.492G=	ENSP00000256474.2:p.Gln164=
ENST00000345392.2:c.369G=	ENSP00000344757.2:p.Gln123=
ENST00000477538.1:n.628G=
NM_000551.3:c.492G= , LRG_322t1:c.492G=	NP_000542.1:p.Gln164=
NM_198156.2:c.369G=	NP_937799.1:p.Gln123=
NM_001354723.1:c.*46G=	NP_001341652.1:n.*46G=
NM_000551.4:c.492G= MANE Select	NP_000542.1:p.Gln164=
NM_001354723.2:c.*46G=	NP_001341652.1:n.*46G=
NM_198156.3:c.369G=	NP_937799.1:p.Gln123=