Canonical Allele Identifier: CA2524653362
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196690201_196690207del , CM000663.2:g.196690201_196690207del GRCh38
NC_000001.10:g.196659331_196659337del , CM000663.1:g.196659331_196659337del GRCh37
NC_000001.9:g.194925954_194925960del NCBI36
NG_007259.1:g.43191_43197del , LRG_47:g.43191_43197del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359637.3:c.1106_1112del ENSP00000352658.2:p.Glu369AlafsTer27
ENST00000470918.2:n.1564_1570del
ENST00000695968.1:c.1115_1121del ENSP00000512295.1:p.Glu372AlafsTer27
ENST00000695969.1:c.1298_1304del ENSP00000512296.1:p.Glu433AlafsTer19
ENST00000695970.1:c.1298_1304del ENSP00000512297.1:p.Glu433AlafsTer19
ENST00000695971.1:c.1277_1283del ENSP00000512298.1:p.Glu426AlafsTer19
ENST00000695972.1:c.1298_1304del ENSP00000512299.1:p.Glu433AlafsTer19
ENST00000695973.1:c.1298_1304del ENSP00000512300.1:p.Glu433AlafsTer19
ENST00000695974.1:c.1298_1304del ENSP00000512301.1:p.Glu433AlafsTer19
ENST00000695975.1:c.1298_1304del ENSP00000512302.1:p.Glu433AlafsTer19
ENST00000695976.1:c.1109_1115del ENSP00000512303.1:p.Glu370AlafsTer19
ENST00000695977.1:n.139_145del
ENST00000695978.1:c.1298_1304del ENSP00000512304.1:p.Glu433AlafsTer16
ENST00000695979.1:c.1277_1283del ENSP00000512305.1:p.Glu426AlafsTer27
ENST00000695980.1:n.1418_1424del
ENST00000695981.1:c.1298_1304del ENSP00000512306.1:p.Glu433AlafsTer19
ENST00000695983.1:c.1298_1304del ENSP00000512308.1:p.Glu433AlafsTer19
ENST00000695984.1:c.244+17038_244+17044del ENSP00000512309.1:n.244+17038_244+17044del
ENST00000695986.1:c.*949_*955del ENSP00000512311.1:n.*949_*955del
ENST00000695987.1:c.1109_1115del ENSP00000512312.1:p.Glu370AlafsTer27
ENST00000696018.1:n.1382_1388del
ENST00000696019.1:n.1382_1388del
ENST00000696020.1:n.1382_1388del
ENST00000696021.1:n.1361_1367del
ENST00000696022.1:n.1382_1388del
ENST00000696023.1:c.1298_1304del ENSP00000512334.1:p.Glu433AlafsTer17
ENST00000696024.1:n.1382_1388del
ENST00000696025.1:n.1382_1388del
ENST00000696026.1:c.1298_1304del ENSP00000512335.1:p.Glu433AlafsTer19
ENST00000696027.1:c.1298_1304del ENSP00000512336.1:p.Glu433AlafsTer19
ENST00000696028.1:c.1298_1304del ENSP00000512337.1:p.Glu433AlafsTer19
ENST00000696029.1:c.1298_1304del ENSP00000512338.1:p.Glu433AlafsTer19
ENST00000696030.1:c.1223_1229del ENSP00000512339.1:p.Glu408AlafsTer27
ENST00000696031.1:c.*816_*822del ENSP00000512340.1:n.*816_*822del
ENST00000696032.1:c.1298_1304del ENSP00000512341.1:p.Glu433AlafsTer19
ENST00000696033.1:c.1159+587_1159+593del ENSP00000512342.1:n.1159+587_1159+593del
ENST00000367429.9:c.1298_1304del MANE Select ENSP00000356399.4:p.Glu433AlafsTer19
ENST00000359637.2:c.1106_1112del ENSP00000352658.2:p.Glu369AlafsTer27
ENST00000367429.8:c.1298_1304del ENSP00000356399.4:p.Glu433AlafsTer19
ENST00000466229.5:n.3314_3320del
ENST00000630130.2:c.1298_1304del ENSP00000487250.1:p.Glu433AlafsTer27
NM_000186.3:c.1298_1304del , LRG_47t1:c.1298_1304del NP_000177.2:p.Glu433AlafsTer19
NM_001014975.2:c.1298_1304del NP_001014975.1:p.Glu433AlafsTer27
XM_017001108.2:c.1298_1304del XP_016856597.1:p.Glu433AlafsTer14
XR_001737134.2:n.1383_1389del
NM_000186.4:c.1298_1304del MANE Select NP_000177.2:p.Glu433AlafsTer19
NM_001014975.3:c.1298_1304del NP_001014975.1:p.Glu433AlafsTer27