Canonical Allele Identifier: CA1345062476

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149849A= , CM000665.2:g.10149849A=	GRCh38
NC_000003.11:g.10191533A= , CM000665.1:g.10191533A=	GRCh37
NC_000003.10:g.10166533A=	NCBI36
NG_008212.3:g.13215A= , LRG_322:g.13215A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*203A=	ENSP00000512434.1:n.*203A=
ENST00000696143.1:c.662A=	ENSP00000512435.1:n.662A=
ENST00000696153.1:c.637A=	ENSP00000512444.1:p.Arg213=
ENST00000256474.3:c.526A= MANE Select	ENSP00000256474.3:p.Arg176=
ENST00000256474.2:c.526A=	ENSP00000256474.2:p.Arg176=
ENST00000345392.2:c.403A=	ENSP00000344757.2:p.Arg135=
ENST00000477538.1:n.662A=
NM_000551.3:c.526A= , LRG_322t1:c.526A=	NP_000542.1:p.Arg176=
NM_198156.2:c.403A=	NP_937799.1:p.Arg135=
NM_001354723.1:c.*80A=	NP_001341652.1:n.*80A=
NM_000551.4:c.526A= MANE Select	NP_000542.1:p.Arg176=
NM_001354723.2:c.*80A=	NP_001341652.1:n.*80A=
NM_198156.3:c.403A=	NP_937799.1:p.Arg135=