Canonical Allele Identifier: CA1217768987

Gene: CFH

Linked Data

• dbSNP Id: rs1652887111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743505_196743506insGAATTTA , CM000663.2:g.196743505_196743506insGAATTTA	GRCh38
NC_000001.10:g.196712635_196712636insGAATTTA , CM000663.1:g.196712635_196712636insGAATTTA	GRCh37
NC_000001.9:g.194979258_194979259insGAATTTA	NCBI36
NG_007259.1:g.96495_96496insGAATTTA , LRG_47:g.96495_96496insGAATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4215_4216insGAATTTA
ENST00000695970.1:c.3013_3014insGAATTTA	ENSP00000512297.1:p.Gln1005ArgfsTer3
ENST00000695971.1:c.3166_3167insGAATTTA	ENSP00000512298.1:p.Gln1056ArgfsTer3
ENST00000695972.1:c.*264_*265insGAATTTA	ENSP00000512299.1:n.*264_*265insGAATTTA
ENST00000695973.1:c.*1551_*1552insGAATTTA	ENSP00000512300.1:n.*1551_*1552insGAATTTA
ENST00000695974.1:c.3010_3011insGAATTTA	ENSP00000512301.1:p.Gln1004ArgfsTer3
ENST00000695975.1:c.*1314_*1315insGAATTTA	ENSP00000512302.1:n.*1314_*1315insGAATTTA
ENST00000695976.1:c.2998_2999insGAATTTA	ENSP00000512303.1:p.Gln1000ArgfsTer3
ENST00000695981.1:c.3187_3188insGAATTTA	ENSP00000512306.1:p.Gln1063ArgfsTer3
ENST00000695984.1:c.1195_1196insGAATTTA	ENSP00000512309.1:p.Gln399ArgfsTer3
ENST00000695986.1:c.*2838_*2839insGAATTTA	ENSP00000512311.1:n.*2838_*2839insGAATTTA
ENST00000696026.1:c.*1469_*1470insGAATTTA	ENSP00000512335.1:n.*1469_*1470insGAATTTA
ENST00000696027.1:c.3181_3182insGAATTTA	ENSP00000512336.1:p.Gln1061ArgfsTer3
ENST00000696028.1:c.3115_3116insGAATTTA	ENSP00000512337.1:p.Gln1039ArgfsTer3
ENST00000696029.1:c.3181_3182insGAATTTA	ENSP00000512338.1:p.Gln1061ArgfsTer3
ENST00000696031.1:c.*2705_*2706insGAATTTA	ENSP00000512340.1:n.*2705_*2706insGAATTTA
ENST00000696032.1:c.3187_3188insGAATTTA	ENSP00000512341.1:p.Gln1063ArgfsTer3
ENST00000696033.1:c.1160-36292_1160-36291insGAATTTA	ENSP00000512342.1:n.1160-36292_1160-36291insGAATTTA
ENST00000367429.9:c.3187_3188insGAATTTA MANE Select	ENSP00000356399.4:p.Gln1063ArgfsTer3
ENST00000367429.8:c.3187_3188insGAATTTA	ENSP00000356399.4:p.Gln1063ArgfsTer3
ENST00000466229.5:n.6285_6286insGAATTTA
NM_000186.3:c.3187_3188insGAATTTA , LRG_47t1:c.3187_3188insGAATTTA	NP_000177.2:p.Gln1063ArgfsTer3
XR_001737134.2:n.3373_3374insGAATTTA
NM_000186.4:c.3187_3188insGAATTTA MANE Select	NP_000177.2:p.Gln1063ArgfsTer3