Canonical Allele Identifier: CA1217743198

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196689830_196689837delinsATATAATT , CM000663.2:g.196689830_196689837delinsATATAATT	GRCh38
NC_000001.10:g.196658960_196658967delinsATATAATT , CM000663.1:g.196658960_196658967delinsATATAATT	GRCh37
NC_000001.9:g.194925583_194925590delinsATATAATT	NCBI36
NG_007259.1:g.42820_42827delinsATATAATT , LRG_47:g.42820_42827delinsATATAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.967+216_967+223delinsATATAATT	ENSP00000352658.2:n.967+216_967+223delinsATATAATT
ENST00000470918.2:n.1425+216_1425+223delinsATATAATT
ENST00000695968.1:c.976+216_976+223delinsATATAATT	ENSP00000512295.1:n.976+216_976+223delinsATATAATT
ENST00000695969.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512296.1:n.1159+216_1159+223delinsATATAATT
ENST00000695970.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512297.1:n.1159+216_1159+223delinsATATAATT
ENST00000695971.1:c.1138+216_1138+223delinsATATAATT	ENSP00000512298.1:n.1138+216_1138+223delinsATATAATT
ENST00000695972.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512299.1:n.1159+216_1159+223delinsATATAATT
ENST00000695973.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512300.1:n.1159+216_1159+223delinsATATAATT
ENST00000695974.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512301.1:n.1159+216_1159+223delinsATATAATT
ENST00000695975.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512302.1:n.1159+216_1159+223delinsATATAATT
ENST00000695976.1:c.970+216_970+223delinsATATAATT	ENSP00000512303.1:n.970+216_970+223delinsATATAATT
ENST00000695978.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512304.1:n.1159+216_1159+223delinsATATAATT
ENST00000695979.1:c.1138+216_1138+223delinsATATAATT	ENSP00000512305.1:n.1138+216_1138+223delinsATATAATT
ENST00000695980.1:n.1279+216_1279+223delinsATATAATT
ENST00000695981.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512306.1:n.1159+216_1159+223delinsATATAATT
ENST00000695983.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512308.1:n.1159+216_1159+223delinsATATAATT
ENST00000695984.1:c.244+16667_244+16674delinsATATAATT	ENSP00000512309.1:n.244+16667_244+16674delinsATATAATT
ENST00000695986.1:c.*810+216_*810+223delinsATATAATT	ENSP00000512311.1:n.*810+216_*810+223delinsATATAATT
ENST00000695987.1:c.970+216_970+223delinsATATAATT	ENSP00000512312.1:n.970+216_970+223delinsATATAATT
ENST00000696018.1:n.1243+216_1243+223delinsATATAATT
ENST00000696019.1:n.1243+216_1243+223delinsATATAATT
ENST00000696020.1:n.1243+216_1243+223delinsATATAATT
ENST00000696021.1:n.1222+216_1222+223delinsATATAATT
ENST00000696022.1:n.1243+216_1243+223delinsATATAATT
ENST00000696023.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512334.1:n.1159+216_1159+223delinsATATAATT
ENST00000696024.1:n.1243+216_1243+223delinsATATAATT
ENST00000696025.1:n.1243+216_1243+223delinsATATAATT
ENST00000696026.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512335.1:n.1159+216_1159+223delinsATATAATT
ENST00000696027.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512336.1:n.1159+216_1159+223delinsATATAATT
ENST00000696028.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512337.1:n.1159+216_1159+223delinsATATAATT
ENST00000696029.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512338.1:n.1159+216_1159+223delinsATATAATT
ENST00000696030.1:c.1084+216_1084+223delinsATATAATT	ENSP00000512339.1:n.1084+216_1084+223delinsATATAATT
ENST00000696031.1:c.*677+216_*677+223delinsATATAATT	ENSP00000512340.1:n.*677+216_*677+223delinsATATAATT
ENST00000696032.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512341.1:n.1159+216_1159+223delinsATATAATT
ENST00000696033.1:c.1159+216_1159+223delinsATATAATT	ENSP00000512342.1:n.1159+216_1159+223delinsATATAATT
ENST00000367429.9:c.1159+216_1159+223delinsATATAATT MANE Select	ENSP00000356399.4:n.1159+216_1159+223delinsATATAATT
ENST00000359637.2:c.967+216_967+223delinsATATAATT	ENSP00000352658.2:n.967+216_967+223delinsATATAATT
ENST00000367429.8:c.1159+216_1159+223delinsATATAATT	ENSP00000356399.4:n.1159+216_1159+223delinsATATAATT
ENST00000466229.5:n.3175+216_3175+223delinsATATAATT
ENST00000630130.2:c.1159+216_1159+223delinsATATAATT	ENSP00000487250.1:n.1159+216_1159+223delinsATATAATT
NM_000186.3:c.1159+216_1159+223delinsATATAATT , LRG_47t1:c.1159+216_1159+223delinsATATAATT	NP_000177.2:n.1159+216_1159+223delinsATATAATT
NM_001014975.2:c.1159+216_1159+223delinsATATAATT	NP_001014975.1:n.1159+216_1159+223delinsATATAATT
XM_017001108.2:c.1159+216_1159+223delinsATATAATT	XP_016856597.1:n.1159+216_1159+223delinsATATAATT
XR_001737134.2:n.1244+216_1244+223delinsATATAATT
NM_000186.4:c.1159+216_1159+223delinsATATAATT MANE Select	NP_000177.2:n.1159+216_1159+223delinsATATAATT
NM_001014975.3:c.1159+216_1159+223delinsATATAATT	NP_001014975.1:n.1159+216_1159+223delinsATATAATT