Canonical Allele Identifier: CA2747229559

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690486_196690487insAAGTTCAAAGCGGGTGACGAGAATCGAACT , CM000663.2:g.196690486_196690487insAAGTTCAAAGCGGGTGACGAGAATCGAACT	GRCh38
NC_000001.10:g.196659616_196659617insAAGTTCAAAGCGGGTGACGAGAATCGAACT , CM000663.1:g.196659616_196659617insAAGTTCAAAGCGGGTGACGAGAATCGAACT	GRCh37
NC_000001.9:g.194926239_194926240insAAGTTCAAAGCGGGTGACGAGAATCGAACT	NCBI36
NG_007259.1:g.43476_43477insAAGTTCAAAGCGGGTGACGAGAATCGAACT , LRG_47:g.43476_43477insAAGTTCAAAGCGGGTGACGAGAATCGAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+247_1144+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000352658.2:n.1144+247_1144+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000470918.2:n.1602+247_1602+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000695968.1:c.1153+247_1153+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512295.1:n.1153+247_1153+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695969.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512296.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695970.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512297.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695971.1:c.1315+247_1315+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512298.1:n.1315+247_1315+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695972.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512299.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695973.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512300.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695974.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512301.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695975.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512302.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695976.1:c.1147+247_1147+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512303.1:n.1147+247_1147+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695977.1:n.177+247_177+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000695978.1:c.1340+243_1340+244insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512304.1:n.1340+243_1340+244insAAGTTCAAAGCGGGTGACGAG...
ENST00000695979.1:c.1315+247_1315+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512305.1:n.1315+247_1315+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695980.1:n.1456+247_1456+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000695981.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512306.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695983.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512308.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695984.1:c.244+17323_244+17324insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512309.1:n.244+17323_244+17324insAAGTTCAAAGCGGGTGACG...
ENST00000695986.1:c.*987+247_*987+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512311.1:n.*987+247_*987+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000695987.1:c.1147+247_1147+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512312.1:n.1147+247_1147+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696018.1:n.1420+247_1420+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696019.1:n.1420+247_1420+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696020.1:n.1420+247_1420+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696021.1:n.1399+247_1399+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696022.1:n.1424+243_1424+244insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696023.1:c.*19+202_*19+203insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512334.1:n.*19+202_*19+203insAAGTTCAAAGCGGGTGACGAGAA...
ENST00000696024.1:n.1420+247_1420+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696025.1:n.1420+247_1420+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000696026.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512335.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696027.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512336.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696028.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512337.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696029.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512338.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696030.1:c.1261+247_1261+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512339.1:n.1261+247_1261+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696031.1:c.*854+247_*854+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512340.1:n.*854+247_*854+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696032.1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512341.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000696033.1:c.1159+872_1159+873insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000512342.1:n.1159+872_1159+873insAAGTTCAAAGCGGGTGACGAG...
ENST00000367429.9:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT MANE Select	ENSP00000356399.4:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000359637.2:c.1144+247_1144+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000352658.2:n.1144+247_1144+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000367429.8:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000356399.4:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
ENST00000466229.5:n.3352+247_3352+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
ENST00000630130.2:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	ENSP00000487250.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAG...
NM_000186.3:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT , LRG_47t1:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	NP_000177.2:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGA...
NM_001014975.2:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	NP_001014975.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAAT...
XM_017001108.2:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	XP_016856597.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAAT...
XR_001737134.2:n.1421+247_1421+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT
NM_000186.4:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT MANE Select	NP_000177.2:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGA...
NM_001014975.3:c.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAATCGAACT	NP_001014975.1:n.1336+247_1336+248insAAGTTCAAAGCGGGTGACGAGAAT...