Canonical Allele Identifier: CA2540241267
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196690391_196690392insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA , CM000663.2:g.196690391_196690392insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA GRCh38
NC_000001.10:g.196659521_196659522insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA , CM000663.1:g.196659521_196659522insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA GRCh37
NC_000001.9:g.194926144_194926145insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA NCBI36
NG_007259.1:g.43381_43382insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA , LRG_47:g.43381_43382insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359637.3:c.1144+152_1144+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000352658.2:n.1144+152_1144+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000470918.2:n.1602+152_1602+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000695968.1:c.1153+152_1153+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512295.1:n.1153+152_1153+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695969.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512296.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695970.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512297.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695971.1:c.1315+152_1315+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512298.1:n.1315+152_1315+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695972.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512299.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695973.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512300.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695974.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512301.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695975.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512302.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695976.1:c.1147+152_1147+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512303.1:n.1147+152_1147+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695977.1:n.177+152_177+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000695978.1:c.1340+148_1340+149insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512304.1:n.1340+148_1340+149insTACTCTTGTTTCAGTCGTTAA...
ENST00000695979.1:c.1315+152_1315+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512305.1:n.1315+152_1315+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695980.1:n.1456+152_1456+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000695981.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512306.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695983.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512308.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695984.1:c.244+17228_244+17229insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512309.1:n.244+17228_244+17229insTACTCTTGTTTCAGTCGTT...
ENST00000695986.1:c.*987+152_*987+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512311.1:n.*987+152_*987+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000695987.1:c.1147+152_1147+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512312.1:n.1147+152_1147+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696018.1:n.1420+152_1420+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696019.1:n.1420+152_1420+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696020.1:n.1420+152_1420+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696021.1:n.1399+152_1399+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696022.1:n.1424+148_1424+149insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696023.1:c.*19+107_*19+108insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512334.1:n.*19+107_*19+108insTACTCTTGTTTCAGTCGTTAACT...
ENST00000696024.1:n.1420+152_1420+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696025.1:n.1420+152_1420+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000696026.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512335.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696027.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512336.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696028.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512337.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696029.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512338.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696030.1:c.1261+152_1261+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512339.1:n.1261+152_1261+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696031.1:c.*854+152_*854+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512340.1:n.*854+152_*854+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696032.1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512341.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000696033.1:c.1159+777_1159+778insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000512342.1:n.1159+777_1159+778insTACTCTTGTTTCAGTCGTTAA...
ENST00000367429.9:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA MANE Select ENSP00000356399.4:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000359637.2:c.1144+152_1144+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000352658.2:n.1144+152_1144+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000367429.8:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000356399.4:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
ENST00000466229.5:n.3352+152_3352+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
ENST00000630130.2:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA ENSP00000487250.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAA...
NM_000186.3:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA , LRG_47t1:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA NP_000177.2:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACC...
NM_001014975.2:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA NP_001014975.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTT...
XM_017001108.2:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA XP_016856597.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTT...
XR_001737134.2:n.1421+152_1421+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA
NM_000186.4:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA MANE Select NP_000177.2:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACC...
NM_001014975.3:c.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTTACCTTTTTGTGCA NP_001014975.1:n.1336+152_1336+153insTACTCTTGTTTCAGTCGTTAACTT...