Canonical Allele Identifier: CA1217769199

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743933_196743934delinsTA , CM000663.2:g.196743933_196743934delinsTA	GRCh38
NC_000001.10:g.196713063_196713064delinsTA , CM000663.1:g.196713063_196713064delinsTA	GRCh37
NC_000001.9:g.194979686_194979687delinsTA	NCBI36
NG_007259.1:g.96923_96924delinsTA , LRG_47:g.96923_96924delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+305_4338+306delinsTA
ENST00000695970.1:c.3136+305_3136+306delinsTA	ENSP00000512297.1:n.3136+305_3136+306delinsTA
ENST00000695971.1:c.3289+305_3289+306delinsTA	ENSP00000512298.1:n.3289+305_3289+306delinsTA
ENST00000695972.1:c.*387+305_*387+306delinsTA	ENSP00000512299.1:n.*387+305_*387+306delinsTA
ENST00000695973.1:c.*1674+305_*1674+306delinsTA	ENSP00000512300.1:n.*1674+305_*1674+306delinsTA
ENST00000695974.1:c.3133+305_3133+306delinsTA	ENSP00000512301.1:n.3133+305_3133+306delinsTA
ENST00000695975.1:c.*1437+305_*1437+306delinsTA	ENSP00000512302.1:n.*1437+305_*1437+306delinsTA
ENST00000695976.1:c.3121+305_3121+306delinsTA	ENSP00000512303.1:n.3121+305_3121+306delinsTA
ENST00000695981.1:c.3310+305_3310+306delinsTA	ENSP00000512306.1:n.3310+305_3310+306delinsTA
ENST00000695984.1:c.1318+305_1318+306delinsTA	ENSP00000512309.1:n.1318+305_1318+306delinsTA
ENST00000695986.1:c.*2961+305_*2961+306delinsTA	ENSP00000512311.1:n.*2961+305_*2961+306delinsTA
ENST00000696026.1:c.*1592+305_*1592+306delinsTA	ENSP00000512335.1:n.*1592+305_*1592+306delinsTA
ENST00000696027.1:c.3304+305_3304+306delinsTA	ENSP00000512336.1:n.3304+305_3304+306delinsTA
ENST00000696028.1:c.3238+305_3238+306delinsTA	ENSP00000512337.1:n.3238+305_3238+306delinsTA
ENST00000696029.1:c.3304+305_3304+306delinsTA	ENSP00000512338.1:n.3304+305_3304+306delinsTA
ENST00000696031.1:c.*2828+305_*2828+306delinsTA	ENSP00000512340.1:n.*2828+305_*2828+306delinsTA
ENST00000696032.1:c.3310+305_3310+306delinsTA	ENSP00000512341.1:n.3310+305_3310+306delinsTA
ENST00000696033.1:c.1160-35864_1160-35863delinsTA	ENSP00000512342.1:n.1160-35864_1160-35863delinsTA
ENST00000367429.9:c.3310+305_3310+306delinsTA MANE Select	ENSP00000356399.4:n.3310+305_3310+306delinsTA
ENST00000367429.8:c.3310+305_3310+306delinsTA	ENSP00000356399.4:n.3310+305_3310+306delinsTA
ENST00000466229.5:n.6408+305_6408+306delinsTA
NM_000186.3:c.3310+305_3310+306delinsTA , LRG_47t1:c.3310+305_3310+306delinsTA	NP_000177.2:n.3310+305_3310+306delinsTA
XR_001737134.2:n.3496+305_3496+306delinsTA
NM_000186.4:c.3310+305_3310+306delinsTA MANE Select	NP_000177.2:n.3310+305_3310+306delinsTA