Canonical Allele Identifier: CA2586964493

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747179_196747181del , CM000663.2:g.196747179_196747181del	GRCh38
NC_000001.10:g.196716309_196716311del , CM000663.1:g.196716309_196716311del	GRCh37
NC_000001.9:g.194982932_194982934del	NCBI36
NG_007259.1:g.100169_100171del , LRG_47:g.100169_100171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4590_4592del
ENST00000695970.1:c.3388_3390del	ENSP00000512297.1:p.Lys1130del
ENST00000695971.1:c.3541_3543del	ENSP00000512298.1:p.Lys1181del
ENST00000695972.1:c.*639_*641del	ENSP00000512299.1:n.*639_*641del
ENST00000695973.1:c.*1926_*1928del	ENSP00000512300.1:n.*1926_*1928del
ENST00000695974.1:c.3385_3387del	ENSP00000512301.1:p.Lys1129del
ENST00000695975.1:c.*1689_*1691del	ENSP00000512302.1:n.*1689_*1691del
ENST00000695976.1:c.3373_3375del	ENSP00000512303.1:p.Lys1125del
ENST00000695981.1:c.3562_3564del	ENSP00000512306.1:p.Lys1188del
ENST00000695984.1:c.1570_1572del	ENSP00000512309.1:p.Lys524del
ENST00000695986.1:c.*3213_*3215del	ENSP00000512311.1:n.*3213_*3215del
ENST00000695990.1:n.596_598del
ENST00000696026.1:c.*1844_*1846del	ENSP00000512335.1:n.*1844_*1846del
ENST00000696027.1:c.3556_3558del	ENSP00000512336.1:p.Lys1186del
ENST00000696028.1:c.3490_3492del	ENSP00000512337.1:p.Lys1164del
ENST00000696029.1:c.3556_3558del	ENSP00000512338.1:p.Lys1186del
ENST00000696031.1:c.*3080_*3082del	ENSP00000512340.1:n.*3080_*3082del
ENST00000696032.1:c.3562_3564del	ENSP00000512341.1:p.Lys1188del
ENST00000696033.1:c.1160-32618_1160-32616del	ENSP00000512342.1:n.1160-32618_1160-32616...
ENST00000367429.9:c.3562_3564del MANE Select	ENSP00000356399.4:p.Lys1188del
ENST00000367429.8:c.3562_3564del	ENSP00000356399.4:p.Lys1188del
ENST00000466229.5:n.6660_6662del
NM_000186.3:c.3562_3564del , LRG_47t1:c.3562_3564del	NP_000177.2:p.Lys1188del
XR_001737134.2:n.3748_3750del
NM_000186.4:c.3562_3564del MANE Select	NP_000177.2:p.Lys1188del