Canonical Allele Identifier: CA2586964468

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743490_196743496delinsCATATAC , CM000663.2:g.196743490_196743496delinsCATATAC	GRCh38
NC_000001.10:g.196712620_196712626delinsCATATAC , CM000663.1:g.196712620_196712626delinsCATATAC	GRCh37
NC_000001.9:g.194979243_194979249delinsCATATAC	NCBI36
NG_007259.1:g.96480_96486delinsCATATAC , LRG_47:g.96480_96486delinsCATATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4200_4206delinsCATATAC
ENST00000695970.1:c.2998_3004delinsCATATAC	ENSP00000512297.1:p.Tyr1000_Val1002delinsHisIleLeu
ENST00000695971.1:c.3151_3157delinsCATATAC	ENSP00000512298.1:p.Tyr1051_Val1053delinsHisIleLeu
ENST00000695972.1:c.*249_*255delinsCATATAC	ENSP00000512299.1:n.*249_*255delinsCATATAC
ENST00000695973.1:c.*1536_*1542delinsCATATAC	ENSP00000512300.1:n.*1536_*1542delinsCATATAC
ENST00000695974.1:c.2995_3001delinsCATATAC	ENSP00000512301.1:p.Tyr999_Val1001delinsHisIleLeu
ENST00000695975.1:c.*1299_*1305delinsCATATAC	ENSP00000512302.1:n.*1299_*1305delinsCATATAC
ENST00000695976.1:c.2983_2989delinsCATATAC	ENSP00000512303.1:p.Tyr995_Val997delinsHisIleLeu
ENST00000695981.1:c.3172_3178delinsCATATAC	ENSP00000512306.1:p.Tyr1058_Val1060delinsHisIleLeu
ENST00000695984.1:c.1180_1186delinsCATATAC	ENSP00000512309.1:p.Tyr394_Val396delinsHisIleLeu
ENST00000695986.1:c.*2823_*2829delinsCATATAC	ENSP00000512311.1:n.*2823_*2829delinsCATATAC
ENST00000696026.1:c.*1454_*1460delinsCATATAC	ENSP00000512335.1:n.*1454_*1460delinsCATATAC
ENST00000696027.1:c.3166_3172delinsCATATAC	ENSP00000512336.1:p.Tyr1056_Val1058delinsHisIleLeu
ENST00000696028.1:c.3100_3106delinsCATATAC	ENSP00000512337.1:p.Tyr1034_Val1036delinsHisIleLeu
ENST00000696029.1:c.3166_3172delinsCATATAC	ENSP00000512338.1:p.Tyr1056_Val1058delinsHisIleLeu
ENST00000696031.1:c.*2690_*2696delinsCATATAC	ENSP00000512340.1:n.*2690_*2696delinsCATATAC
ENST00000696032.1:c.3172_3178delinsCATATAC	ENSP00000512341.1:p.Tyr1058_Val1060delinsHisIleLeu
ENST00000696033.1:c.1160-36307_1160-36301delinsCATATAC	ENSP00000512342.1:n.1160-36307_1160-36301delinsCATATAC
ENST00000367429.9:c.3172_3178delinsCATATAC MANE Select	ENSP00000356399.4:p.Tyr1058_Val1060delinsHisIleLeu
ENST00000367429.8:c.3172_3178delinsCATATAC	ENSP00000356399.4:p.Tyr1058_Val1060delinsHisIleLeu
ENST00000466229.5:n.6270_6276delinsCATATAC
NM_000186.3:c.3172_3178delinsCATATAC , LRG_47t1:c.3172_3178delinsCATATAC	NP_000177.2:p.Tyr1058_Val1060delinsHisIleLeu
XR_001737134.2:n.3358_3364delinsCATATAC
NM_000186.4:c.3172_3178delinsCATATAC MANE Select	NP_000177.2:p.Tyr1058_Val1060delinsHisIleLeu