Canonical Allele Identifier: CA1345062727

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149895A= , CM000665.2:g.10149895A=	GRCh38
NC_000003.11:g.10191579A= , CM000665.1:g.10191579A=	GRCh37
NC_000003.10:g.10166579A=	NCBI36
NG_008212.3:g.13261A= , LRG_322:g.13261A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*249A=	ENSP00000512434.1:n.*249A=
ENST00000696143.1:c.708A=	ENSP00000512435.1:n.708A=
ENST00000696153.1:c.683A=	ENSP00000512444.1:p.His228=
ENST00000256474.3:c.572A= MANE Select	ENSP00000256474.3:p.His191=
ENST00000256474.2:c.572A=	ENSP00000256474.2:p.His191=
ENST00000345392.2:c.449A=	ENSP00000344757.2:p.His150=
ENST00000477538.1:n.708A=
NM_000551.3:c.572A= , LRG_322t1:c.572A=	NP_000542.1:p.His191=
NM_198156.2:c.449A=	NP_937799.1:p.His150=
NM_001354723.1:c.*126A=	NP_001341652.1:n.*126A=
NM_000551.4:c.572A= MANE Select	NP_000542.1:p.His191=
NM_001354723.2:c.*126A=	NP_001341652.1:n.*126A=
NM_198156.3:c.449A=	NP_937799.1:p.His150=