Canonical Allele Identifier: CA1345062922

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149919A= , CM000665.2:g.10149919A=	GRCh38
NC_000003.11:g.10191603A= , CM000665.1:g.10191603A=	GRCh37
NC_000003.10:g.10166603A=	NCBI36
NG_008212.3:g.13285A= , LRG_322:g.13285A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*273A=	ENSP00000512434.1:n.*273A=
ENST00000696143.1:c.732A=	ENSP00000512435.1:n.732A=
ENST00000696153.1:c.707A=	ENSP00000512444.1:p.Glu236=
ENST00000256474.3:c.596A= MANE Select	ENSP00000256474.3:p.Glu199=
ENST00000256474.2:c.596A=	ENSP00000256474.2:p.Glu199=
ENST00000345392.2:c.473A=	ENSP00000344757.2:p.Glu158=
ENST00000477538.1:n.732A=
NM_000551.3:c.596A= , LRG_322t1:c.596A=	NP_000542.1:p.Glu199=
NM_198156.2:c.473A=	NP_937799.1:p.Glu158=
NM_001354723.1:c.*150A=	NP_001341652.1:n.*150A=
NM_000551.4:c.596A= MANE Select	NP_000542.1:p.Glu199=
NM_001354723.2:c.*150A=	NP_001341652.1:n.*150A=
NM_198156.3:c.473A=	NP_937799.1:p.Glu158=