Canonical Allele Identifier: CA1217743442
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196690450_196690469delinsGGGCATTAGTCAAGAATACA , CM000663.2:g.196690450_196690469delinsGGGCATTAGTCAAGAATACA GRCh38
NC_000001.10:g.196659580_196659599delinsGGGCATTAGTCAAGAATACA , CM000663.1:g.196659580_196659599delinsGGGCATTAGTCAAGAATACA GRCh37
NC_000001.9:g.194926203_194926222delinsGGGCATTAGTCAAGAATACA NCBI36
NG_007259.1:g.43440_43459delinsGGGCATTAGTCAAGAATACA , LRG_47:g.43440_43459delinsGGGCATTAGTCAAGAATACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359637.3:c.1144+211_1144+230delinsGGGCATTAGTCAAGAATACA ENSP00000352658.2:n.1144+211_1144+230delinsGGGCATTAGTCAAGAATA...
ENST00000470918.2:n.1602+211_1602+230delinsGGGCATTAGTCAAGAATACA
ENST00000695968.1:c.1153+211_1153+230delinsGGGCATTAGTCAAGAATACA ENSP00000512295.1:n.1153+211_1153+230delinsGGGCATTAGTCAAGAATA...
ENST00000695969.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512296.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695970.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512297.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695971.1:c.1315+211_1315+230delinsGGGCATTAGTCAAGAATACA ENSP00000512298.1:n.1315+211_1315+230delinsGGGCATTAGTCAAGAATA...
ENST00000695972.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512299.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695973.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512300.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695974.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512301.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695975.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512302.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695976.1:c.1147+211_1147+230delinsGGGCATTAGTCAAGAATACA ENSP00000512303.1:n.1147+211_1147+230delinsGGGCATTAGTCAAGAATA...
ENST00000695977.1:n.177+211_177+230delinsGGGCATTAGTCAAGAATACA
ENST00000695978.1:c.1340+207_1340+226delinsGGGCATTAGTCAAGAATACA ENSP00000512304.1:n.1340+207_1340+226delinsGGGCATTAGTCAAGAATA...
ENST00000695979.1:c.1315+211_1315+230delinsGGGCATTAGTCAAGAATACA ENSP00000512305.1:n.1315+211_1315+230delinsGGGCATTAGTCAAGAATA...
ENST00000695980.1:n.1456+211_1456+230delinsGGGCATTAGTCAAGAATACA
ENST00000695981.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512306.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695983.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512308.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000695984.1:c.244+17287_244+17306delinsGGGCATTAGTCAAGAATACA ENSP00000512309.1:n.244+17287_244+17306delinsGGGCATTAGTCAAGAA...
ENST00000695986.1:c.*987+211_*987+230delinsGGGCATTAGTCAAGAATACA ENSP00000512311.1:n.*987+211_*987+230delinsGGGCATTAGTCAAGAATA...
ENST00000695987.1:c.1147+211_1147+230delinsGGGCATTAGTCAAGAATACA ENSP00000512312.1:n.1147+211_1147+230delinsGGGCATTAGTCAAGAATA...
ENST00000696018.1:n.1420+211_1420+230delinsGGGCATTAGTCAAGAATACA
ENST00000696019.1:n.1420+211_1420+230delinsGGGCATTAGTCAAGAATACA
ENST00000696020.1:n.1420+211_1420+230delinsGGGCATTAGTCAAGAATACA
ENST00000696021.1:n.1399+211_1399+230delinsGGGCATTAGTCAAGAATACA
ENST00000696022.1:n.1424+207_1424+226delinsGGGCATTAGTCAAGAATACA
ENST00000696023.1:c.*19+166_*19+185delinsGGGCATTAGTCAAGAATACA ENSP00000512334.1:n.*19+166_*19+185delinsGGGCATTAGTCAAGAATACA...
ENST00000696024.1:n.1420+211_1420+230delinsGGGCATTAGTCAAGAATACA
ENST00000696025.1:n.1420+211_1420+230delinsGGGCATTAGTCAAGAATACA
ENST00000696026.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512335.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000696027.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512336.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000696028.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512337.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000696029.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512338.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000696030.1:c.1261+211_1261+230delinsGGGCATTAGTCAAGAATACA ENSP00000512339.1:n.1261+211_1261+230delinsGGGCATTAGTCAAGAATA...
ENST00000696031.1:c.*854+211_*854+230delinsGGGCATTAGTCAAGAATACA ENSP00000512340.1:n.*854+211_*854+230delinsGGGCATTAGTCAAGAATA...
ENST00000696032.1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000512341.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000696033.1:c.1159+836_1159+855delinsGGGCATTAGTCAAGAATACA ENSP00000512342.1:n.1159+836_1159+855delinsGGGCATTAGTCAAGAATA...
ENST00000367429.9:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA MANE Select ENSP00000356399.4:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000359637.2:c.1144+211_1144+230delinsGGGCATTAGTCAAGAATACA ENSP00000352658.2:n.1144+211_1144+230delinsGGGCATTAGTCAAGAATA...
ENST00000367429.8:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000356399.4:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
ENST00000466229.5:n.3352+211_3352+230delinsGGGCATTAGTCAAGAATACA
ENST00000630130.2:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA ENSP00000487250.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATA...
NM_000186.3:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA , LRG_47t1:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA NP_000177.2:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA
NM_001014975.2:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA NP_001014975.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA
XM_017001108.2:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA XP_016856597.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA
XR_001737134.2:n.1421+211_1421+230delinsGGGCATTAGTCAAGAATACA
NM_000186.4:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA MANE Select NP_000177.2:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA
NM_001014975.3:c.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA NP_001014975.1:n.1336+211_1336+230delinsGGGCATTAGTCAAGAATACA