Canonical Allele Identifier: CA916374267

Gene: CFH

Linked Data

• dbSNP Id: rs1558185886

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743627_196743628insCATTTT , CM000663.2:g.196743627_196743628insCATTTT	GRCh38
NC_000001.10:g.196712757_196712758insCATTTT , CM000663.1:g.196712757_196712758insCATTTT	GRCh37
NC_000001.9:g.194979380_194979381insCATTTT	NCBI36
NG_007259.1:g.96617_96618insCATTTT , LRG_47:g.96617_96618insCATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4337_4338insCATTTT
ENST00000695970.1:c.3135_3136insCATTTT	ENSP00000512297.1:p.Lys1045_Asp1046insHisPhe
ENST00000695971.1:c.3288_3289insCATTTT	ENSP00000512298.1:p.Lys1096_Asp1097insHisPhe
ENST00000695972.1:c.*386_*387insCATTTT	ENSP00000512299.1:n.*386_*387insCATTTT
ENST00000695973.1:c.*1673_*1674insCATTTT	ENSP00000512300.1:n.*1673_*1674insCATTTT
ENST00000695974.1:c.3132_3133insCATTTT	ENSP00000512301.1:p.Lys1044_Asp1045insHisPhe
ENST00000695975.1:c.*1436_*1437insCATTTT	ENSP00000512302.1:n.*1436_*1437insCATTTT
ENST00000695976.1:c.3120_3121insCATTTT	ENSP00000512303.1:p.Lys1040_Asp1041insHisPhe
ENST00000695981.1:c.3309_3310insCATTTT	ENSP00000512306.1:p.Lys1103_Asp1104insHisPhe
ENST00000695984.1:c.1317_1318insCATTTT	ENSP00000512309.1:p.Lys439_Asp440insHisPhe
ENST00000695986.1:c.*2960_*2961insCATTTT	ENSP00000512311.1:n.*2960_*2961insCATTTT
ENST00000696026.1:c.*1591_*1592insCATTTT	ENSP00000512335.1:n.*1591_*1592insCATTTT
ENST00000696027.1:c.3303_3304insCATTTT	ENSP00000512336.1:p.Lys1101_Asp1102insHisPhe
ENST00000696028.1:c.3237_3238insCATTTT	ENSP00000512337.1:p.Lys1079_Asp1080insHisPhe
ENST00000696029.1:c.3303_3304insCATTTT	ENSP00000512338.1:p.Lys1101_Asp1102insHisPhe
ENST00000696031.1:c.*2827_*2828insCATTTT	ENSP00000512340.1:n.*2827_*2828insCATTTT
ENST00000696032.1:c.3309_3310insCATTTT	ENSP00000512341.1:p.Lys1103_Asp1104insHisPhe
ENST00000696033.1:c.1160-36170_1160-36169insCATTTT	ENSP00000512342.1:n.1160-36170_1160-36169insCATTTT
ENST00000367429.9:c.3309_3310insCATTTT MANE Select	ENSP00000356399.4:p.Lys1103_Asp1104insHisPhe
ENST00000367429.8:c.3309_3310insCATTTT	ENSP00000356399.4:p.Lys1103_Asp1104insHisPhe
ENST00000466229.5:n.6407_6408insCATTTT
NM_000186.3:c.3309_3310insCATTTT , LRG_47t1:c.3309_3310insCATTTT	NP_000177.2:p.Lys1103_Asp1104insHisPhe
XR_001737134.2:n.3495_3496insCATTTT
NM_000186.4:c.3309_3310insCATTTT MANE Select	NP_000177.2:p.Lys1103_Asp1104insHisPhe