Canonical Allele Identifier: CA2549623398

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715418_196715419insGGGGGGGGGGGGGGGGGGG , CM000663.2:g.196715418_196715419insGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000001.10:g.196684548_196684549insGGGGGGGGGGGGGGGGGGG , CM000663.1:g.196684548_196684549insGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000001.9:g.194951171_194951172insGGGGGGGGGGGGGGGGGGG	NCBI36
NG_007259.1:g.68408_68409insGGGGGGGGGGGGGGGGGGG , LRG_47:g.68408_68409insGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.1786-175_1786-174insGGGGGGGGGGGGGGGGGGG
ENST00000695969.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512296.1:n.1520-175_1520-174insG...
ENST00000695970.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512297.1:n.1520-175_1520-174insG...
ENST00000695971.1:c.1499-175_1499-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512298.1:n.1499-175_1499-174insG...
ENST00000695972.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512299.1:n.1520-175_1520-174insG...
ENST00000695973.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512300.1:n.1520-175_1520-174insG...
ENST00000695974.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512301.1:n.1520-175_1520-174insG...
ENST00000695975.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512302.1:n.1520-175_1520-174insG...
ENST00000695976.1:c.1331-175_1331-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512303.1:n.1331-175_1331-174insG...
ENST00000695981.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512306.1:n.1520-175_1520-174insG...
ENST00000695983.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512308.1:n.1520-175_1520-174insG...
ENST00000695984.1:c.245-12928_245-12927insGGGGGGGGGGGGGGGGGGG	ENSP00000512309.1:n.245-12928_245-12927in...
ENST00000695986.1:c.*1171-175_*1171-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512311.1:n.*1171-175_*1171-174in...
ENST00000696024.1:n.1604-175_1604-174insGGGGGGGGGGGGGGGGGGG
ENST00000696025.1:n.1604-175_1604-174insGGGGGGGGGGGGGGGGGGG
ENST00000696026.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512335.1:n.1520-175_1520-174insG...
ENST00000696027.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512336.1:n.1520-175_1520-174insG...
ENST00000696028.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512337.1:n.1520-175_1520-174insG...
ENST00000696029.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512338.1:n.1520-175_1520-174insG...
ENST00000696031.1:c.*1038-175_*1038-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512340.1:n.*1038-175_*1038-174in...
ENST00000696032.1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000512341.1:n.1520-175_1520-174insG...
ENST00000696033.1:c.1159+25804_1159+25805insGGGGGGGGGGGGGGGGGGG	ENSP00000512342.1:n.1159+25804_1159+25805...
ENST00000367429.9:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000356399.4:n.1520-175_1520-174insG...
ENST00000367429.8:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	ENSP00000356399.4:n.1520-175_1520-174insG...
ENST00000466229.5:n.3536-175_3536-174insGGGGGGGGGGGGGGGGGGG
NM_000186.3:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG , LRG_47t1:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG	NP_000177.2:n.1520-175_1520-174insGGGGGGG...
XR_001737134.2:n.1605-175_1605-174insGGGGGGGGGGGGGGGGGGG
NM_000186.4:c.1520-175_1520-174insGGGGGGGGGGGGGGGGGGG MANE Select	NP_000177.2:n.1520-175_1520-174insGGGGGGG...