Canonical Allele Identifier: CA422663628

Gene: CFH

Linked Data

• gnomAD v4: 1-196747260-C-A
• MyVariant Identifiers: chr1:g.196716390C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747260C>A , CM000663.2:g.196747260C>A	GRCh38
NC_000001.10:g.196716390C>A , CM000663.1:g.196716390C>A	GRCh37
NC_000001.9:g.194983013C>A	NCBI36
NG_007259.1:g.100250C>A , LRG_47:g.100250C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4671C>A
ENST00000695970.1:c.3469C>A	ENSP00000512297.1:p.Arg1157=
ENST00000695971.1:c.3622C>A	ENSP00000512298.1:p.Arg1208=
ENST00000695972.1:c.*720C>A	ENSP00000512299.1:n.*720C>A
ENST00000695973.1:c.*2007C>A	ENSP00000512300.1:n.*2007C>A
ENST00000695974.1:c.3466C>A	ENSP00000512301.1:p.Arg1156=
ENST00000695975.1:c.*1770C>A	ENSP00000512302.1:n.*1770C>A
ENST00000695976.1:c.3454C>A	ENSP00000512303.1:p.Arg1152=
ENST00000695981.1:c.3580+63C>A	ENSP00000512306.1:n.3580+63C>A
ENST00000695984.1:c.1651C>A	ENSP00000512309.1:p.Arg551=
ENST00000695986.1:c.*3294C>A	ENSP00000512311.1:n.*3294C>A
ENST00000695990.1:n.677C>A
ENST00000696026.1:c.*1925C>A	ENSP00000512335.1:n.*1925C>A
ENST00000696027.1:c.3637C>A	ENSP00000512336.1:p.Arg1213=
ENST00000696028.1:c.3571C>A	ENSP00000512337.1:p.Arg1191=
ENST00000696029.1:c.3637C>A	ENSP00000512338.1:p.Arg1213=
ENST00000696031.1:c.*3161C>A	ENSP00000512340.1:n.*3161C>A
ENST00000696032.1:c.3580+63C>A	ENSP00000512341.1:n.3580+63C>A
ENST00000696033.1:c.1160-32537C>A	ENSP00000512342.1:n.1160-32537C>A
ENST00000367429.9:c.3643C>A MANE Select	ENSP00000356399.4:p.Arg1215=
ENST00000367429.8:c.3643C>A	ENSP00000356399.4:p.Arg1215=
ENST00000466229.5:n.6741C>A
NM_000186.3:c.3643C>A , LRG_47t1:c.3643C>A	NP_000177.2:p.Arg1215=
XR_001737134.2:n.3829C>A
NM_000186.4:c.3643C>A MANE Select	NP_000177.2:p.Arg1215=