Canonical Allele Identifier: CA2548014052

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196725982_196725993del , CM000663.2:g.196725982_196725993del	GRCh38
NC_000001.10:g.196695112_196695123del , CM000663.1:g.196695112_196695123del	GRCh37
NC_000001.9:g.194961735_194961746del	NCBI36
NG_007259.1:g.78972_78983del , LRG_47:g.78972_78983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2140-488_2140-477del
ENST00000695969.1:c.1874-488_1874-477del	ENSP00000512296.1:n.1874-488_1874-477del
ENST00000695970.1:c.1874-488_1874-477del	ENSP00000512297.1:n.1874-488_1874-477del
ENST00000695971.1:c.1853-488_1853-477del	ENSP00000512298.1:n.1853-488_1853-477del
ENST00000695972.1:c.1874-488_1874-477del	ENSP00000512299.1:n.1874-488_1874-477del
ENST00000695973.1:c.*238-488_*238-477del	ENSP00000512300.1:n.*238-488_*238-477del
ENST00000695974.1:c.1697-488_1697-477del	ENSP00000512301.1:n.1697-488_1697-477del
ENST00000695975.1:c.1874-474_1874-463del	ENSP00000512302.1:n.1874-474_1874-463del
ENST00000695976.1:c.1685-488_1685-477del	ENSP00000512303.1:n.1685-488_1685-477del
ENST00000695981.1:c.1874-488_1874-477del	ENSP00000512306.1:n.1874-488_1874-477del
ENST00000695983.1:c.1874-488_1874-477del	ENSP00000512308.1:n.1874-488_1874-477del
ENST00000695984.1:c.245-2364_245-2353del	ENSP00000512309.1:n.245-2364_245-2353del
ENST00000695986.1:c.*1525-488_*1525-477del	ENSP00000512311.1:n.*1525-488_*1525-477de...
ENST00000696025.1:n.1958-488_1958-477del
ENST00000696026.1:c.*156-488_*156-477del	ENSP00000512335.1:n.*156-488_*156-477del
ENST00000696027.1:c.1874-488_1874-477del	ENSP00000512336.1:n.1874-488_1874-477del
ENST00000696028.1:c.1874-488_1874-477del	ENSP00000512337.1:n.1874-488_1874-477del
ENST00000696029.1:c.1874-488_1874-477del	ENSP00000512338.1:n.1874-488_1874-477del
ENST00000696031.1:c.*1392-488_*1392-477del	ENSP00000512340.1:n.*1392-488_*1392-477de...
ENST00000696032.1:c.1874-488_1874-477del	ENSP00000512341.1:n.1874-488_1874-477del
ENST00000696033.1:c.1159+36368_1159+36379del	ENSP00000512342.1:n.1159+36368_1159+36379...
ENST00000367429.9:c.1874-488_1874-477del MANE Select	ENSP00000356399.4:n.1874-488_1874-477del
ENST00000367429.8:c.1874-488_1874-477del	ENSP00000356399.4:n.1874-488_1874-477del
ENST00000466229.5:n.3890-488_3890-477del
NM_000186.3:c.1874-488_1874-477del , LRG_47t1:c.1874-488_1874-477del	NP_000177.2:n.1874-488_1874-477del
XR_001737134.2:n.2060-488_2060-477del
NM_000186.4:c.1874-488_1874-477del MANE Select	NP_000177.2:n.1874-488_1874-477del