Canonical Allele Identifier: CA1217768757

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743074_196743078delinsCTATT , CM000663.2:g.196743074_196743078delinsCTATT	GRCh38
NC_000001.10:g.196712204_196712208delinsCTATT , CM000663.1:g.196712204_196712208delinsCTATT	GRCh37
NC_000001.9:g.194978827_194978831delinsCTATT	NCBI36
NG_007259.1:g.96064_96068delinsCTATT , LRG_47:g.96064_96068delinsCTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-378_4162-374delinsCTATT
ENST00000695970.1:c.2960-378_2960-374delinsCTATT	ENSP00000512297.1:n.2960-378_2960-374delinsCTATT
ENST00000695971.1:c.3113-378_3113-374delinsCTATT	ENSP00000512298.1:n.3113-378_3113-374delinsCTATT
ENST00000695972.1:c.*211-378_*211-374delinsCTATT	ENSP00000512299.1:n.*211-378_*211-374delinsCTATT
ENST00000695973.1:c.*1498-378_*1498-374delinsCTATT	ENSP00000512300.1:n.*1498-378_*1498-374delinsCTATT
ENST00000695974.1:c.2957-378_2957-374delinsCTATT	ENSP00000512301.1:n.2957-378_2957-374delinsCTATT
ENST00000695975.1:c.*1261-378_*1261-374delinsCTATT	ENSP00000512302.1:n.*1261-378_*1261-374delinsCTATT
ENST00000695976.1:c.2945-378_2945-374delinsCTATT	ENSP00000512303.1:n.2945-378_2945-374delinsCTATT
ENST00000695981.1:c.3134-378_3134-374delinsCTATT	ENSP00000512306.1:n.3134-378_3134-374delinsCTATT
ENST00000695984.1:c.1142-378_1142-374delinsCTATT	ENSP00000512309.1:n.1142-378_1142-374delinsCTATT
ENST00000695986.1:c.*2785-378_*2785-374delinsCTATT	ENSP00000512311.1:n.*2785-378_*2785-374delinsCTATT
ENST00000696026.1:c.*1416-378_*1416-374delinsCTATT	ENSP00000512335.1:n.*1416-378_*1416-374delinsCTATT
ENST00000696027.1:c.3128-378_3128-374delinsCTATT	ENSP00000512336.1:n.3128-378_3128-374delinsCTATT
ENST00000696028.1:c.3062-378_3062-374delinsCTATT	ENSP00000512337.1:n.3062-378_3062-374delinsCTATT
ENST00000696029.1:c.3128-378_3128-374delinsCTATT	ENSP00000512338.1:n.3128-378_3128-374delinsCTATT
ENST00000696031.1:c.*2652-378_*2652-374delinsCTATT	ENSP00000512340.1:n.*2652-378_*2652-374delinsCTATT
ENST00000696032.1:c.3134-378_3134-374delinsCTATT	ENSP00000512341.1:n.3134-378_3134-374delinsCTATT
ENST00000696033.1:c.1160-36723_1160-36719delinsCTATT	ENSP00000512342.1:n.1160-36723_1160-36719delinsCTATT
ENST00000367429.9:c.3134-378_3134-374delinsCTATT MANE Select	ENSP00000356399.4:n.3134-378_3134-374delinsCTATT
ENST00000367429.8:c.3134-378_3134-374delinsCTATT	ENSP00000356399.4:n.3134-378_3134-374delinsCTATT
ENST00000466229.5:n.6232-378_6232-374delinsCTATT
NM_000186.3:c.3134-378_3134-374delinsCTATT , LRG_47t1:c.3134-378_3134-374delinsCTATT	NP_000177.2:n.3134-378_3134-374delinsCTATT
XR_001737134.2:n.3320-378_3320-374delinsCTATT
NM_000186.4:c.3134-378_3134-374delinsCTATT MANE Select	NP_000177.2:n.3134-378_3134-374delinsCTATT