Canonical Allele Identifier: CA2505602126

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690511_196690513del , CM000663.2:g.196690511_196690513del	GRCh38
NC_000001.10:g.196659641_196659643del , CM000663.1:g.196659641_196659643del	GRCh37
NC_000001.9:g.194926264_194926266del	NCBI36
NG_007259.1:g.43501_43503del , LRG_47:g.43501_43503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+272_1144+274del	ENSP00000352658.2:n.1144+272_1144+274del
ENST00000470918.2:n.1602+272_1602+274del
ENST00000695968.1:c.1153+272_1153+274del	ENSP00000512295.1:n.1153+272_1153+274del
ENST00000695969.1:c.1336+272_1336+274del	ENSP00000512296.1:n.1336+272_1336+274del
ENST00000695970.1:c.1336+272_1336+274del	ENSP00000512297.1:n.1336+272_1336+274del
ENST00000695971.1:c.1315+272_1315+274del	ENSP00000512298.1:n.1315+272_1315+274del
ENST00000695972.1:c.1336+272_1336+274del	ENSP00000512299.1:n.1336+272_1336+274del
ENST00000695973.1:c.1336+272_1336+274del	ENSP00000512300.1:n.1336+272_1336+274del
ENST00000695974.1:c.1336+272_1336+274del	ENSP00000512301.1:n.1336+272_1336+274del
ENST00000695975.1:c.1336+272_1336+274del	ENSP00000512302.1:n.1336+272_1336+274del
ENST00000695976.1:c.1147+272_1147+274del	ENSP00000512303.1:n.1147+272_1147+274del
ENST00000695977.1:n.177+272_177+274del
ENST00000695978.1:c.1340+268_1340+270del	ENSP00000512304.1:n.1340+268_1340+270del
ENST00000695979.1:c.1315+272_1315+274del	ENSP00000512305.1:n.1315+272_1315+274del
ENST00000695980.1:n.1456+272_1456+274del
ENST00000695981.1:c.1336+272_1336+274del	ENSP00000512306.1:n.1336+272_1336+274del
ENST00000695983.1:c.1336+272_1336+274del	ENSP00000512308.1:n.1336+272_1336+274del
ENST00000695984.1:c.244+17348_244+17350del	ENSP00000512309.1:n.244+17348_244+17350del
ENST00000695986.1:c.*987+272_*987+274del	ENSP00000512311.1:n.*987+272_*987+274del
ENST00000695987.1:c.1147+272_1147+274del	ENSP00000512312.1:n.1147+272_1147+274del
ENST00000696018.1:n.1420+272_1420+274del
ENST00000696019.1:n.1420+272_1420+274del
ENST00000696020.1:n.1420+272_1420+274del
ENST00000696021.1:n.1399+272_1399+274del
ENST00000696022.1:n.1424+268_1424+270del
ENST00000696023.1:c.*19+227_*19+229del	ENSP00000512334.1:n.*19+227_*19+229del
ENST00000696024.1:n.1420+272_1420+274del
ENST00000696025.1:n.1420+272_1420+274del
ENST00000696026.1:c.1336+272_1336+274del	ENSP00000512335.1:n.1336+272_1336+274del
ENST00000696027.1:c.1336+272_1336+274del	ENSP00000512336.1:n.1336+272_1336+274del
ENST00000696028.1:c.1336+272_1336+274del	ENSP00000512337.1:n.1336+272_1336+274del
ENST00000696029.1:c.1336+272_1336+274del	ENSP00000512338.1:n.1336+272_1336+274del
ENST00000696030.1:c.1261+272_1261+274del	ENSP00000512339.1:n.1261+272_1261+274del
ENST00000696031.1:c.*854+272_*854+274del	ENSP00000512340.1:n.*854+272_*854+274del
ENST00000696032.1:c.1336+272_1336+274del	ENSP00000512341.1:n.1336+272_1336+274del
ENST00000696033.1:c.1159+897_1159+899del	ENSP00000512342.1:n.1159+897_1159+899del
ENST00000367429.9:c.1336+272_1336+274del MANE Select	ENSP00000356399.4:n.1336+272_1336+274del
ENST00000359637.2:c.1144+272_1144+274del	ENSP00000352658.2:n.1144+272_1144+274del
ENST00000367429.8:c.1336+272_1336+274del	ENSP00000356399.4:n.1336+272_1336+274del
ENST00000466229.5:n.3352+272_3352+274del
ENST00000630130.2:c.1336+272_1336+274del	ENSP00000487250.1:n.1336+272_1336+274del
NM_000186.3:c.1336+272_1336+274del , LRG_47t1:c.1336+272_1336+274del	NP_000177.2:n.1336+272_1336+274del
NM_001014975.2:c.1336+272_1336+274del	NP_001014975.1:n.1336+272_1336+274del
XM_017001108.2:c.1336+272_1336+274del	XP_016856597.1:n.1336+272_1336+274del
XR_001737134.2:n.1421+272_1421+274del
NM_000186.4:c.1336+272_1336+274del MANE Select	NP_000177.2:n.1336+272_1336+274del
NM_001014975.3:c.1336+272_1336+274del	NP_001014975.1:n.1336+272_1336+274del