Canonical Allele Identifier: CA1345062488

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149852A= , CM000665.2:g.10149852A=	GRCh38
NC_000003.11:g.10191536A= , CM000665.1:g.10191536A=	GRCh37
NC_000003.10:g.10166536A=	NCBI36
NG_008212.3:g.13218A= , LRG_322:g.13218A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*206A=	ENSP00000512434.1:n.*206A=
ENST00000696143.1:c.665A=	ENSP00000512435.1:n.665A=
ENST00000696153.1:c.640A=	ENSP00000512444.1:p.Arg214=
ENST00000256474.3:c.529A= MANE Select	ENSP00000256474.3:p.Arg177=
ENST00000256474.2:c.529A=	ENSP00000256474.2:p.Arg177=
ENST00000345392.2:c.406A=	ENSP00000344757.2:p.Arg136=
ENST00000477538.1:n.665A=
NM_000551.3:c.529A= , LRG_322t1:c.529A=	NP_000542.1:p.Arg177=
NM_198156.2:c.406A=	NP_937799.1:p.Arg136=
NM_001354723.1:c.*83A=	NP_001341652.1:n.*83A=
NM_000551.4:c.529A= MANE Select	NP_000542.1:p.Arg177=
NM_001354723.2:c.*83A=	NP_001341652.1:n.*83A=
NM_198156.3:c.406A=	NP_937799.1:p.Arg136=