Canonical Allele Identifier: CA2565153117

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690489_196690490insAGCGGGTGACGAGAATCGAACTCGCGA , CM000663.2:g.196690489_196690490insAGCGGGTGACGAGAATCGAACTCGCGA	GRCh38
NC_000001.10:g.196659619_196659620insAGCGGGTGACGAGAATCGAACTCGCGA , CM000663.1:g.196659619_196659620insAGCGGGTGACGAGAATCGAACTCGCGA	GRCh37
NC_000001.9:g.194926242_194926243insAGCGGGTGACGAGAATCGAACTCGCGA	NCBI36
NG_007259.1:g.43479_43480insAGCGGGTGACGAGAATCGAACTCGCGA , LRG_47:g.43479_43480insAGCGGGTGACGAGAATCGAACTCGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+250_1144+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000352658.2:n.1144+250_1144+251insAGCGGGTGACGAGAATCGAAC...
ENST00000470918.2:n.1602+250_1602+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000695968.1:c.1153+250_1153+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512295.1:n.1153+250_1153+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695969.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512296.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695970.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512297.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695971.1:c.1315+250_1315+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512298.1:n.1315+250_1315+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695972.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512299.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695973.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512300.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695974.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512301.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695975.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512302.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695976.1:c.1147+250_1147+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512303.1:n.1147+250_1147+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695977.1:n.177+250_177+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000695978.1:c.1340+246_1340+247insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512304.1:n.1340+246_1340+247insAGCGGGTGACGAGAATCGAAC...
ENST00000695979.1:c.1315+250_1315+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512305.1:n.1315+250_1315+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695980.1:n.1456+250_1456+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000695981.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512306.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695983.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512308.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695984.1:c.244+17326_244+17327insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512309.1:n.244+17326_244+17327insAGCGGGTGACGAGAATCGA...
ENST00000695986.1:c.*987+250_*987+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512311.1:n.*987+250_*987+251insAGCGGGTGACGAGAATCGAAC...
ENST00000695987.1:c.1147+250_1147+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512312.1:n.1147+250_1147+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696018.1:n.1420+250_1420+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696019.1:n.1420+250_1420+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696020.1:n.1420+250_1420+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696021.1:n.1399+250_1399+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696022.1:n.1424+246_1424+247insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696023.1:c.*19+205_*19+206insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512334.1:n.*19+205_*19+206insAGCGGGTGACGAGAATCGAACTC...
ENST00000696024.1:n.1420+250_1420+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696025.1:n.1420+250_1420+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000696026.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512335.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696027.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512336.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696028.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512337.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696029.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512338.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696030.1:c.1261+250_1261+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512339.1:n.1261+250_1261+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696031.1:c.*854+250_*854+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512340.1:n.*854+250_*854+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696032.1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512341.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000696033.1:c.1159+875_1159+876insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000512342.1:n.1159+875_1159+876insAGCGGGTGACGAGAATCGAAC...
ENST00000367429.9:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA MANE Select	ENSP00000356399.4:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000359637.2:c.1144+250_1144+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000352658.2:n.1144+250_1144+251insAGCGGGTGACGAGAATCGAAC...
ENST00000367429.8:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000356399.4:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
ENST00000466229.5:n.3352+250_3352+251insAGCGGGTGACGAGAATCGAACTCGCGA
ENST00000630130.2:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	ENSP00000487250.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAAC...
NM_000186.3:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA , LRG_47t1:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	NP_000177.2:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA...
NM_001014975.2:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	NP_001014975.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCG...
XM_017001108.2:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	XP_016856597.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCG...
XR_001737134.2:n.1421+250_1421+251insAGCGGGTGACGAGAATCGAACTCGCGA
NM_000186.4:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA MANE Select	NP_000177.2:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA...
NM_001014975.3:c.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCGCGA	NP_001014975.1:n.1336+250_1336+251insAGCGGGTGACGAGAATCGAACTCG...