Canonical Allele Identifier: CA2586964494

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747182_196747195del , CM000663.2:g.196747182_196747195del	GRCh38
NC_000001.10:g.196716312_196716325del , CM000663.1:g.196716312_196716325del	GRCh37
NC_000001.9:g.194982935_194982948del	NCBI36
NG_007259.1:g.100172_100185del , LRG_47:g.100172_100185del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4593_4606del
ENST00000695970.1:c.3391_3404del	ENSP00000512297.1:p.Leu1131ArgfsTer2
ENST00000695971.1:c.3544_3557del	ENSP00000512298.1:p.Leu1182ArgfsTer2
ENST00000695972.1:c.*642_*655del	ENSP00000512299.1:n.*642_*655del
ENST00000695973.1:c.*1929_*1942del	ENSP00000512300.1:n.*1929_*1942del
ENST00000695974.1:c.3388_3401del	ENSP00000512301.1:p.Leu1130ArgfsTer2
ENST00000695975.1:c.*1692_*1705del	ENSP00000512302.1:n.*1692_*1705del
ENST00000695976.1:c.3376_3389del	ENSP00000512303.1:p.Leu1126ArgfsTer2
ENST00000695981.1:c.3565_3578del	ENSP00000512306.1:p.Leu1189ArgfsTer21
ENST00000695984.1:c.1573_1586del	ENSP00000512309.1:p.Leu525ArgfsTer2
ENST00000695986.1:c.*3216_*3229del	ENSP00000512311.1:n.*3216_*3229del
ENST00000695990.1:n.599_612del
ENST00000696026.1:c.*1847_*1860del	ENSP00000512335.1:n.*1847_*1860del
ENST00000696027.1:c.3559_3572del	ENSP00000512336.1:p.Leu1187ArgfsTer2
ENST00000696028.1:c.3493_3506del	ENSP00000512337.1:p.Leu1165ArgfsTer2
ENST00000696029.1:c.3559_3572del	ENSP00000512338.1:p.Leu1187ArgfsTer2
ENST00000696031.1:c.*3083_*3096del	ENSP00000512340.1:n.*3083_*3096del
ENST00000696032.1:c.3565_3578del	ENSP00000512341.1:p.Leu1189SerfsTer5
ENST00000696033.1:c.1160-32615_1160-32602del	ENSP00000512342.1:n.1160-32615_1160-32602...
ENST00000367429.9:c.3565_3578del MANE Select	ENSP00000356399.4:p.Leu1189ArgfsTer2
ENST00000367429.8:c.3565_3578del	ENSP00000356399.4:p.Leu1189ArgfsTer2
ENST00000466229.5:n.6663_6676del
NM_000186.3:c.3565_3578del , LRG_47t1:c.3565_3578del	NP_000177.2:p.Leu1189ArgfsTer2
XR_001737134.2:n.3751_3764del
NM_000186.4:c.3565_3578del MANE Select	NP_000177.2:p.Leu1189ArgfsTer2