Canonical Allele Identifier: CA1345062589

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149867A= , CM000665.2:g.10149867A=	GRCh38
NC_000003.11:g.10191551A= , CM000665.1:g.10191551A=	GRCh37
NC_000003.10:g.10166551A=	NCBI36
NG_008212.3:g.13233A= , LRG_322:g.13233A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*221A=	ENSP00000512434.1:n.*221A=
ENST00000696143.1:c.680A=	ENSP00000512435.1:n.680A=
ENST00000696153.1:c.655A=	ENSP00000512444.1:p.Arg219=
ENST00000256474.3:c.544A= MANE Select	ENSP00000256474.3:p.Arg182=
ENST00000256474.2:c.544A=	ENSP00000256474.2:p.Arg182=
ENST00000345392.2:c.421A=	ENSP00000344757.2:p.Arg141=
ENST00000477538.1:n.680A=
NM_000551.3:c.544A= , LRG_322t1:c.544A=	NP_000542.1:p.Arg182=
NM_198156.2:c.421A=	NP_937799.1:p.Arg141=
NM_001354723.1:c.*98A=	NP_001341652.1:n.*98A=
NM_000551.4:c.544A= MANE Select	NP_000542.1:p.Arg182=
NM_001354723.2:c.*98A=	NP_001341652.1:n.*98A=
NM_198156.3:c.421A=	NP_937799.1:p.Arg141=