Canonical Allele Identifier: CA2508598501

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690490_196690491insGACGAGAATCGAACTCGCG , CM000663.2:g.196690490_196690491insGACGAGAATCGAACTCGCG	GRCh38
NC_000001.10:g.196659620_196659621insGACGAGAATCGAACTCGCG , CM000663.1:g.196659620_196659621insGACGAGAATCGAACTCGCG	GRCh37
NC_000001.9:g.194926243_194926244insGACGAGAATCGAACTCGCG	NCBI36
NG_007259.1:g.43480_43481insGACGAGAATCGAACTCGCG , LRG_47:g.43480_43481insGACGAGAATCGAACTCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+251_1144+252insGACGAGAATCGAACTCGCG	ENSP00000352658.2:n.1144+251_1144+252insGACGAGAATCGAACTCGCG
ENST00000470918.2:n.1602+251_1602+252insGACGAGAATCGAACTCGCG
ENST00000695968.1:c.1153+251_1153+252insGACGAGAATCGAACTCGCG	ENSP00000512295.1:n.1153+251_1153+252insGACGAGAATCGAACTCGCG
ENST00000695969.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512296.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695970.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512297.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695971.1:c.1315+251_1315+252insGACGAGAATCGAACTCGCG	ENSP00000512298.1:n.1315+251_1315+252insGACGAGAATCGAACTCGCG
ENST00000695972.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512299.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695973.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512300.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695974.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512301.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695975.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512302.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695976.1:c.1147+251_1147+252insGACGAGAATCGAACTCGCG	ENSP00000512303.1:n.1147+251_1147+252insGACGAGAATCGAACTCGCG
ENST00000695977.1:n.177+251_177+252insGACGAGAATCGAACTCGCG
ENST00000695978.1:c.1340+247_1340+248insGACGAGAATCGAACTCGCG	ENSP00000512304.1:n.1340+247_1340+248insGACGAGAATCGAACTCGCG
ENST00000695979.1:c.1315+251_1315+252insGACGAGAATCGAACTCGCG	ENSP00000512305.1:n.1315+251_1315+252insGACGAGAATCGAACTCGCG
ENST00000695980.1:n.1456+251_1456+252insGACGAGAATCGAACTCGCG
ENST00000695981.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512306.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695983.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512308.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000695984.1:c.244+17327_244+17328insGACGAGAATCGAACTCGCG	ENSP00000512309.1:n.244+17327_244+17328insGACGAGAATCGAACTCGCG...
ENST00000695986.1:c.*987+251_*987+252insGACGAGAATCGAACTCGCG	ENSP00000512311.1:n.*987+251_*987+252insGACGAGAATCGAACTCGCG
ENST00000695987.1:c.1147+251_1147+252insGACGAGAATCGAACTCGCG	ENSP00000512312.1:n.1147+251_1147+252insGACGAGAATCGAACTCGCG
ENST00000696018.1:n.1420+251_1420+252insGACGAGAATCGAACTCGCG
ENST00000696019.1:n.1420+251_1420+252insGACGAGAATCGAACTCGCG
ENST00000696020.1:n.1420+251_1420+252insGACGAGAATCGAACTCGCG
ENST00000696021.1:n.1399+251_1399+252insGACGAGAATCGAACTCGCG
ENST00000696022.1:n.1424+247_1424+248insGACGAGAATCGAACTCGCG
ENST00000696023.1:c.*19+206_*19+207insGACGAGAATCGAACTCGCG	ENSP00000512334.1:n.*19+206_*19+207insGACGAGAATCGAACTCGCG
ENST00000696024.1:n.1420+251_1420+252insGACGAGAATCGAACTCGCG
ENST00000696025.1:n.1420+251_1420+252insGACGAGAATCGAACTCGCG
ENST00000696026.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512335.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000696027.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512336.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000696028.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512337.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000696029.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512338.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000696030.1:c.1261+251_1261+252insGACGAGAATCGAACTCGCG	ENSP00000512339.1:n.1261+251_1261+252insGACGAGAATCGAACTCGCG
ENST00000696031.1:c.*854+251_*854+252insGACGAGAATCGAACTCGCG	ENSP00000512340.1:n.*854+251_*854+252insGACGAGAATCGAACTCGCG
ENST00000696032.1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000512341.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000696033.1:c.1159+876_1159+877insGACGAGAATCGAACTCGCG	ENSP00000512342.1:n.1159+876_1159+877insGACGAGAATCGAACTCGCG
ENST00000367429.9:c.1336+251_1336+252insGACGAGAATCGAACTCGCG MANE Select	ENSP00000356399.4:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000359637.2:c.1144+251_1144+252insGACGAGAATCGAACTCGCG	ENSP00000352658.2:n.1144+251_1144+252insGACGAGAATCGAACTCGCG
ENST00000367429.8:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000356399.4:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
ENST00000466229.5:n.3352+251_3352+252insGACGAGAATCGAACTCGCG
ENST00000630130.2:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	ENSP00000487250.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
NM_000186.3:c.1336+251_1336+252insGACGAGAATCGAACTCGCG , LRG_47t1:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	NP_000177.2:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
NM_001014975.2:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	NP_001014975.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
XM_017001108.2:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	XP_016856597.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
XR_001737134.2:n.1421+251_1421+252insGACGAGAATCGAACTCGCG
NM_000186.4:c.1336+251_1336+252insGACGAGAATCGAACTCGCG MANE Select	NP_000177.2:n.1336+251_1336+252insGACGAGAATCGAACTCGCG
NM_001014975.3:c.1336+251_1336+252insGACGAGAATCGAACTCGCG	NP_001014975.1:n.1336+251_1336+252insGACGAGAATCGAACTCGCG