Canonical Allele Identifier: CA1217770740

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747122_196747135delinsATATCCCGAGAAAT , CM000663.2:g.196747122_196747135delinsATATCCCGAGAAAT	GRCh38
NC_000001.10:g.196716252_196716265delinsATATCCCGAGAAAT , CM000663.1:g.196716252_196716265delinsATATCCCGAGAAAT	GRCh37
NC_000001.9:g.194982875_194982888delinsATATCCCGAGAAAT	NCBI36
NG_007259.1:g.100112_100125delinsATATCCCGAGAAAT , LRG_47:g.100112_100125delinsATATCCCGAGAAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4533_4546delinsATATCCCGAGAAAT
ENST00000695970.1:c.3331_3344delinsATATCCCGAGAAAT	ENSP00000512297.1:p.Ile1111=
ENST00000695971.1:c.3484_3497delinsATATCCCGAGAAAT	ENSP00000512298.1:p.Ile1162=
ENST00000695972.1:c.*582_*595delinsATATCCCGAGAAAT	ENSP00000512299.1:n.*582_*595delinsATATCC...
ENST00000695973.1:c.*1869_*1882delinsATATCCCGAGAAAT	ENSP00000512300.1:n.*1869_*1882delinsATAT...
ENST00000695974.1:c.3328_3341delinsATATCCCGAGAAAT	ENSP00000512301.1:p.Ile1110=
ENST00000695975.1:c.*1632_*1645delinsATATCCCGAGAAAT	ENSP00000512302.1:n.*1632_*1645delinsATAT...
ENST00000695976.1:c.3316_3329delinsATATCCCGAGAAAT	ENSP00000512303.1:p.Ile1106=
ENST00000695981.1:c.3505_3518delinsATATCCCGAGAAAT	ENSP00000512306.1:p.Ile1169=
ENST00000695984.1:c.1513_1526delinsATATCCCGAGAAAT	ENSP00000512309.1:p.Ile505=
ENST00000695986.1:c.*3156_*3169delinsATATCCCGAGAAAT	ENSP00000512311.1:n.*3156_*3169delinsATAT...
ENST00000695990.1:n.539_552delinsATATCCCGAGAAAT
ENST00000696026.1:c.*1787_*1800delinsATATCCCGAGAAAT	ENSP00000512335.1:n.*1787_*1800delinsATAT...
ENST00000696027.1:c.3499_3512delinsATATCCCGAGAAAT	ENSP00000512336.1:p.Ile1167=
ENST00000696028.1:c.3433_3446delinsATATCCCGAGAAAT	ENSP00000512337.1:p.Ile1145=
ENST00000696029.1:c.3499_3512delinsATATCCCGAGAAAT	ENSP00000512338.1:p.Ile1167=
ENST00000696031.1:c.*3023_*3036delinsATATCCCGAGAAAT	ENSP00000512340.1:n.*3023_*3036delinsATAT...
ENST00000696032.1:c.3505_3518delinsATATCCCGAGAAAT	ENSP00000512341.1:p.Ile1169=
ENST00000696033.1:c.1160-32675_1160-32662delinsATATCCCGAGAAAT	ENSP00000512342.1:n.1160-32675_1160-32662...
ENST00000367429.9:c.3505_3518delinsATATCCCGAGAAAT MANE Select	ENSP00000356399.4:p.Ile1169=
ENST00000367429.8:c.3505_3518delinsATATCCCGAGAAAT	ENSP00000356399.4:p.Ile1169=
ENST00000466229.5:n.6603_6616delinsATATCCCGAGAAAT
NM_000186.3:c.3505_3518delinsATATCCCGAGAAAT , LRG_47t1:c.3505_3518delinsATATCCCGAGAAAT	NP_000177.2:p.Ile1169=
XR_001737134.2:n.3691_3704delinsATATCCCGAGAAAT
NM_000186.4:c.3505_3518delinsATATCCCGAGAAAT MANE Select	NP_000177.2:p.Ile1169=