Canonical Allele Identifier: CA1010862800

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196723257_196723258insTTTTTT , CM000663.2:g.196723257_196723258insTTTTTT	GRCh38
NC_000001.10:g.196692387_196692388insTTTTTT , CM000663.1:g.196692387_196692388insTTTTTT	GRCh37
NC_000001.9:g.194959010_194959011insTTTTTT	NCBI36
NG_007259.1:g.76247_76248insTTTTTT , LRG_47:g.76247_76248insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1963-1864_1963-1863insTTTTTT
ENST00000695969.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512296.1:n.1697-1864_1697-1863insTTTTTT
ENST00000695970.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512297.1:n.1697-1864_1697-1863insTTTTTT
ENST00000695971.1:c.1676-1864_1676-1863insTTTTTT	ENSP00000512298.1:n.1676-1864_1676-1863insTTTTTT
ENST00000695972.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512299.1:n.1697-1864_1697-1863insTTTTTT
ENST00000695973.1:c.*61-1864_*61-1863insTTTTTT	ENSP00000512300.1:n.*61-1864_*61-1863insTTTTTT
ENST00000695974.1:c.1697-3213_1697-3212insTTTTTT	ENSP00000512301.1:n.1697-3213_1697-3212insTTTTTT
ENST00000695975.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512302.1:n.1697-1864_1697-1863insTTTTTT
ENST00000695976.1:c.1508-1864_1508-1863insTTTTTT	ENSP00000512303.1:n.1508-1864_1508-1863insTTTTTT
ENST00000695981.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512306.1:n.1697-1864_1697-1863insTTTTTT
ENST00000695983.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512308.1:n.1697-1864_1697-1863insTTTTTT
ENST00000695984.1:c.245-5089_245-5088insTTTTTT	ENSP00000512309.1:n.245-5089_245-5088insTTTTTT
ENST00000695986.1:c.*1348-1864_*1348-1863insTTTTTT	ENSP00000512311.1:n.*1348-1864_*1348-1863insTTTTTT
ENST00000696025.1:n.1781-1864_1781-1863insTTTTTT
ENST00000696026.1:c.1701-1870_1701-1869insTTTTTT	ENSP00000512335.1:n.1701-1870_1701-1869insTTTTTT
ENST00000696027.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512336.1:n.1697-1864_1697-1863insTTTTTT
ENST00000696028.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512337.1:n.1697-1864_1697-1863insTTTTTT
ENST00000696029.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512338.1:n.1697-1864_1697-1863insTTTTTT
ENST00000696031.1:c.*1215-1864_*1215-1863insTTTTTT	ENSP00000512340.1:n.*1215-1864_*1215-1863insTTTTTT
ENST00000696032.1:c.1697-1864_1697-1863insTTTTTT	ENSP00000512341.1:n.1697-1864_1697-1863insTTTTTT
ENST00000696033.1:c.1159+33643_1159+33644insTTTTTT	ENSP00000512342.1:n.1159+33643_1159+33644insTTTTTT
ENST00000367429.9:c.1697-1864_1697-1863insTTTTTT MANE Select	ENSP00000356399.4:n.1697-1864_1697-1863insTTTTTT
ENST00000367429.8:c.1697-1864_1697-1863insTTTTTT	ENSP00000356399.4:n.1697-1864_1697-1863insTTTTTT
ENST00000466229.5:n.3713-1864_3713-1863insTTTTTT
NM_000186.3:c.1697-1864_1697-1863insTTTTTT , LRG_47t1:c.1697-1864_1697-1863insTTTTTT	NP_000177.2:n.1697-1864_1697-1863insTTTTTT
XR_001737134.2:n.1883-1864_1883-1863insTTTTTT
NM_000186.4:c.1697-1864_1697-1863insTTTTTT MANE Select	NP_000177.2:n.1697-1864_1697-1863insTTTTTT