Canonical Allele Identifier: CA1217768923

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743385_196743388delinsCTGT , CM000663.2:g.196743385_196743388delinsCTGT	GRCh38
NC_000001.10:g.196712515_196712518delinsCTGT , CM000663.1:g.196712515_196712518delinsCTGT	GRCh37
NC_000001.9:g.194979138_194979141delinsCTGT	NCBI36
NG_007259.1:g.96375_96378delinsCTGT , LRG_47:g.96375_96378delinsCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-67_4162-64delinsCTGT
ENST00000695970.1:c.2960-67_2960-64delinsCTGT	ENSP00000512297.1:n.2960-67_2960-64delinsCTGT
ENST00000695971.1:c.3113-67_3113-64delinsCTGT	ENSP00000512298.1:n.3113-67_3113-64delinsCTGT
ENST00000695972.1:c.*211-67_*211-64delinsCTGT	ENSP00000512299.1:n.*211-67_*211-64delinsCTGT
ENST00000695973.1:c.*1498-67_*1498-64delinsCTGT	ENSP00000512300.1:n.*1498-67_*1498-64delinsCTGT
ENST00000695974.1:c.2957-67_2957-64delinsCTGT	ENSP00000512301.1:n.2957-67_2957-64delinsCTGT
ENST00000695975.1:c.*1261-67_*1261-64delinsCTGT	ENSP00000512302.1:n.*1261-67_*1261-64delinsCTGT
ENST00000695976.1:c.2945-67_2945-64delinsCTGT	ENSP00000512303.1:n.2945-67_2945-64delinsCTGT
ENST00000695981.1:c.3134-67_3134-64delinsCTGT	ENSP00000512306.1:n.3134-67_3134-64delinsCTGT
ENST00000695984.1:c.1142-67_1142-64delinsCTGT	ENSP00000512309.1:n.1142-67_1142-64delinsCTGT
ENST00000695986.1:c.*2785-67_*2785-64delinsCTGT	ENSP00000512311.1:n.*2785-67_*2785-64delinsCTGT
ENST00000696026.1:c.*1416-67_*1416-64delinsCTGT	ENSP00000512335.1:n.*1416-67_*1416-64delinsCTGT
ENST00000696027.1:c.3128-67_3128-64delinsCTGT	ENSP00000512336.1:n.3128-67_3128-64delinsCTGT
ENST00000696028.1:c.3062-67_3062-64delinsCTGT	ENSP00000512337.1:n.3062-67_3062-64delinsCTGT
ENST00000696029.1:c.3128-67_3128-64delinsCTGT	ENSP00000512338.1:n.3128-67_3128-64delinsCTGT
ENST00000696031.1:c.*2652-67_*2652-64delinsCTGT	ENSP00000512340.1:n.*2652-67_*2652-64delinsCTGT
ENST00000696032.1:c.3134-67_3134-64delinsCTGT	ENSP00000512341.1:n.3134-67_3134-64delinsCTGT
ENST00000696033.1:c.1160-36412_1160-36409delinsCTGT	ENSP00000512342.1:n.1160-36412_1160-36409delinsCTGT
ENST00000367429.9:c.3134-67_3134-64delinsCTGT MANE Select	ENSP00000356399.4:n.3134-67_3134-64delinsCTGT
ENST00000367429.8:c.3134-67_3134-64delinsCTGT	ENSP00000356399.4:n.3134-67_3134-64delinsCTGT
ENST00000466229.5:n.6232-67_6232-64delinsCTGT
NM_000186.3:c.3134-67_3134-64delinsCTGT , LRG_47t1:c.3134-67_3134-64delinsCTGT	NP_000177.2:n.3134-67_3134-64delinsCTGT
XR_001737134.2:n.3320-67_3320-64delinsCTGT
NM_000186.4:c.3134-67_3134-64delinsCTGT MANE Select	NP_000177.2:n.3134-67_3134-64delinsCTGT