Canonical Allele Identifier: CA1217770800

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747321_196747323delinsCAT , CM000663.2:g.196747321_196747323delinsCAT	GRCh38
NC_000001.10:g.196716451_196716453delinsCAT , CM000663.1:g.196716451_196716453delinsCAT	GRCh37
NC_000001.9:g.194983074_194983076delinsCAT	NCBI36
NG_007259.1:g.100311_100313delinsCAT , LRG_47:g.100311_100313delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4732_4734delinsCAT
ENST00000695970.1:c.*8_*10delinsCAT	ENSP00000512297.1:n.*8_*10delinsCAT
ENST00000695971.1:c.*8_*10delinsCAT	ENSP00000512298.1:n.*8_*10delinsCAT
ENST00000695972.1:c.*781_*783delinsCAT	ENSP00000512299.1:n.*781_*783delinsCAT
ENST00000695973.1:c.*2068_*2070delinsCAT	ENSP00000512300.1:n.*2068_*2070delinsCAT
ENST00000695974.1:c.*8_*10delinsCAT	ENSP00000512301.1:n.*8_*10delinsCAT
ENST00000695975.1:c.*1831_*1833delinsCAT	ENSP00000512302.1:n.*1831_*1833delinsCAT
ENST00000695976.1:c.*8_*10delinsCAT	ENSP00000512303.1:n.*8_*10delinsCAT
ENST00000695981.1:c.3580+124_3580+126delinsCAT	ENSP00000512306.1:n.3580+124_3580+126delinsCAT
ENST00000695984.1:c.*8_*10delinsCAT	ENSP00000512309.1:n.*8_*10delinsCAT
ENST00000695986.1:c.*3355_*3357delinsCAT	ENSP00000512311.1:n.*3355_*3357delinsCAT
ENST00000695990.1:n.738_740delinsCAT
ENST00000696026.1:c.*1986_*1988delinsCAT	ENSP00000512335.1:n.*1986_*1988delinsCAT
ENST00000696027.1:c.*8_*10delinsCAT	ENSP00000512336.1:n.*8_*10delinsCAT
ENST00000696028.1:c.*8_*10delinsCAT	ENSP00000512337.1:n.*8_*10delinsCAT
ENST00000696029.1:c.*8_*10delinsCAT	ENSP00000512338.1:n.*8_*10delinsCAT
ENST00000696031.1:c.*3222_*3224delinsCAT	ENSP00000512340.1:n.*3222_*3224delinsCAT
ENST00000696032.1:c.3580+124_3580+126delinsCAT	ENSP00000512341.1:n.3580+124_3580+126delinsCAT
ENST00000696033.1:c.1160-32476_1160-32474delinsCAT	ENSP00000512342.1:n.1160-32476_1160-32474delinsCAT
ENST00000367429.9:c.*8_*10delinsCAT MANE Select	ENSP00000356399.4:n.*8_*10delinsCAT
ENST00000367429.8:c.*8_*10delinsCAT	ENSP00000356399.4:n.*8_*10delinsCAT
ENST00000466229.5:n.6802_6804delinsCAT
NM_000186.3:c.*8_*10delinsCAT , LRG_47t1:c.*8_*10delinsCAT	NP_000177.2:n.*8_*10delinsCAT
XR_001737134.2:n.3890_3892delinsCAT
NM_000186.4:c.*8_*10delinsCAT MANE Select	NP_000177.2:n.*8_*10delinsCAT