Canonical Allele Identifier: CA2747231251

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743982_196743983dup , CM000663.2:g.196743982_196743983dup	GRCh38
NC_000001.10:g.196713112_196713113dup , CM000663.1:g.196713112_196713113dup	GRCh37
NC_000001.9:g.194979735_194979736dup	NCBI36
NG_007259.1:g.96972_96973dup , LRG_47:g.96972_96973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+354_4338+355dup
ENST00000695970.1:c.3136+354_3136+355dup	ENSP00000512297.1:n.3136+354_3136+355dup
ENST00000695971.1:c.3289+354_3289+355dup	ENSP00000512298.1:n.3289+354_3289+355dup
ENST00000695972.1:c.*387+354_*387+355dup	ENSP00000512299.1:n.*387+354_*387+355dup
ENST00000695973.1:c.*1674+354_*1674+355dup	ENSP00000512300.1:n.*1674+354_*1674+355dup
ENST00000695974.1:c.3133+354_3133+355dup	ENSP00000512301.1:n.3133+354_3133+355dup
ENST00000695975.1:c.*1437+354_*1437+355dup	ENSP00000512302.1:n.*1437+354_*1437+355dup
ENST00000695976.1:c.3121+354_3121+355dup	ENSP00000512303.1:n.3121+354_3121+355dup
ENST00000695981.1:c.3310+354_3310+355dup	ENSP00000512306.1:n.3310+354_3310+355dup
ENST00000695984.1:c.1318+354_1318+355dup	ENSP00000512309.1:n.1318+354_1318+355dup
ENST00000695986.1:c.*2961+354_*2961+355dup	ENSP00000512311.1:n.*2961+354_*2961+355dup
ENST00000696026.1:c.*1592+354_*1592+355dup	ENSP00000512335.1:n.*1592+354_*1592+355dup
ENST00000696027.1:c.3304+354_3304+355dup	ENSP00000512336.1:n.3304+354_3304+355dup
ENST00000696028.1:c.3238+354_3238+355dup	ENSP00000512337.1:n.3238+354_3238+355dup
ENST00000696029.1:c.3304+354_3304+355dup	ENSP00000512338.1:n.3304+354_3304+355dup
ENST00000696031.1:c.*2828+354_*2828+355dup	ENSP00000512340.1:n.*2828+354_*2828+355dup
ENST00000696032.1:c.3310+354_3310+355dup	ENSP00000512341.1:n.3310+354_3310+355dup
ENST00000696033.1:c.1160-35815_1160-35814dup	ENSP00000512342.1:n.1160-35815_1160-35814dup
ENST00000367429.9:c.3310+354_3310+355dup MANE Select	ENSP00000356399.4:n.3310+354_3310+355dup
ENST00000367429.8:c.3310+354_3310+355dup	ENSP00000356399.4:n.3310+354_3310+355dup
ENST00000466229.5:n.6408+354_6408+355dup
NM_000186.3:c.3310+354_3310+355dup , LRG_47t1:c.3310+354_3310+355dup	NP_000177.2:n.3310+354_3310+355dup
XR_001737134.2:n.3496+354_3496+355dup
NM_000186.4:c.3310+354_3310+355dup MANE Select	NP_000177.2:n.3310+354_3310+355dup