Canonical Allele Identifier: CA1217743208

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196689845_196689849delinsCTATT , CM000663.2:g.196689845_196689849delinsCTATT	GRCh38
NC_000001.10:g.196658975_196658979delinsCTATT , CM000663.1:g.196658975_196658979delinsCTATT	GRCh37
NC_000001.9:g.194925598_194925602delinsCTATT	NCBI36
NG_007259.1:g.42835_42839delinsCTATT , LRG_47:g.42835_42839delinsCTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.968-218_968-214delinsCTATT	ENSP00000352658.2:n.968-218_968-214delinsCTATT
ENST00000470918.2:n.1426-218_1426-214delinsCTATT
ENST00000695968.1:c.977-218_977-214delinsCTATT	ENSP00000512295.1:n.977-218_977-214delinsCTATT
ENST00000695969.1:c.1160-218_1160-214delinsCTATT	ENSP00000512296.1:n.1160-218_1160-214delinsCTATT
ENST00000695970.1:c.1160-218_1160-214delinsCTATT	ENSP00000512297.1:n.1160-218_1160-214delinsCTATT
ENST00000695971.1:c.1139-218_1139-214delinsCTATT	ENSP00000512298.1:n.1139-218_1139-214delinsCTATT
ENST00000695972.1:c.1160-218_1160-214delinsCTATT	ENSP00000512299.1:n.1160-218_1160-214delinsCTATT
ENST00000695973.1:c.1160-218_1160-214delinsCTATT	ENSP00000512300.1:n.1160-218_1160-214delinsCTATT
ENST00000695974.1:c.1160-218_1160-214delinsCTATT	ENSP00000512301.1:n.1160-218_1160-214delinsCTATT
ENST00000695975.1:c.1160-218_1160-214delinsCTATT	ENSP00000512302.1:n.1160-218_1160-214delinsCTATT
ENST00000695976.1:c.971-218_971-214delinsCTATT	ENSP00000512303.1:n.971-218_971-214delinsCTATT
ENST00000695978.1:c.1160-218_1160-214delinsCTATT	ENSP00000512304.1:n.1160-218_1160-214delinsCTATT
ENST00000695979.1:c.1139-218_1139-214delinsCTATT	ENSP00000512305.1:n.1139-218_1139-214delinsCTATT
ENST00000695980.1:n.1280-218_1280-214delinsCTATT
ENST00000695981.1:c.1160-218_1160-214delinsCTATT	ENSP00000512306.1:n.1160-218_1160-214delinsCTATT
ENST00000695983.1:c.1160-218_1160-214delinsCTATT	ENSP00000512308.1:n.1160-218_1160-214delinsCTATT
ENST00000695984.1:c.244+16682_244+16686delinsCTATT	ENSP00000512309.1:n.244+16682_244+16686delinsCTATT
ENST00000695986.1:c.*811-218_*811-214delinsCTATT	ENSP00000512311.1:n.*811-218_*811-214delinsCTATT
ENST00000695987.1:c.971-218_971-214delinsCTATT	ENSP00000512312.1:n.971-218_971-214delinsCTATT
ENST00000696018.1:n.1244-218_1244-214delinsCTATT
ENST00000696019.1:n.1244-218_1244-214delinsCTATT
ENST00000696020.1:n.1244-218_1244-214delinsCTATT
ENST00000696021.1:n.1223-218_1223-214delinsCTATT
ENST00000696022.1:n.1244-218_1244-214delinsCTATT
ENST00000696023.1:c.1160-218_1160-214delinsCTATT	ENSP00000512334.1:n.1160-218_1160-214delinsCTATT
ENST00000696024.1:n.1244-218_1244-214delinsCTATT
ENST00000696025.1:n.1244-218_1244-214delinsCTATT
ENST00000696026.1:c.1160-218_1160-214delinsCTATT	ENSP00000512335.1:n.1160-218_1160-214delinsCTATT
ENST00000696027.1:c.1160-218_1160-214delinsCTATT	ENSP00000512336.1:n.1160-218_1160-214delinsCTATT
ENST00000696028.1:c.1160-218_1160-214delinsCTATT	ENSP00000512337.1:n.1160-218_1160-214delinsCTATT
ENST00000696029.1:c.1160-218_1160-214delinsCTATT	ENSP00000512338.1:n.1160-218_1160-214delinsCTATT
ENST00000696030.1:c.1085-218_1085-214delinsCTATT	ENSP00000512339.1:n.1085-218_1085-214delinsCTATT
ENST00000696031.1:c.*678-218_*678-214delinsCTATT	ENSP00000512340.1:n.*678-218_*678-214delinsCTATT
ENST00000696032.1:c.1160-218_1160-214delinsCTATT	ENSP00000512341.1:n.1160-218_1160-214delinsCTATT
ENST00000696033.1:c.1159+231_1159+235delinsCTATT	ENSP00000512342.1:n.1159+231_1159+235delinsCTATT
ENST00000367429.9:c.1160-218_1160-214delinsCTATT MANE Select	ENSP00000356399.4:n.1160-218_1160-214delinsCTATT
ENST00000359637.2:c.968-218_968-214delinsCTATT	ENSP00000352658.2:n.968-218_968-214delinsCTATT
ENST00000367429.8:c.1160-218_1160-214delinsCTATT	ENSP00000356399.4:n.1160-218_1160-214delinsCTATT
ENST00000466229.5:n.3176-218_3176-214delinsCTATT
ENST00000630130.2:c.1160-218_1160-214delinsCTATT	ENSP00000487250.1:n.1160-218_1160-214delinsCTATT
NM_000186.3:c.1160-218_1160-214delinsCTATT , LRG_47t1:c.1160-218_1160-214delinsCTATT	NP_000177.2:n.1160-218_1160-214delinsCTATT
NM_001014975.2:c.1160-218_1160-214delinsCTATT	NP_001014975.1:n.1160-218_1160-214delinsCTATT
XM_017001108.2:c.1160-218_1160-214delinsCTATT	XP_016856597.1:n.1160-218_1160-214delinsCTATT
XR_001737134.2:n.1245-218_1245-214delinsCTATT
NM_000186.4:c.1160-218_1160-214delinsCTATT MANE Select	NP_000177.2:n.1160-218_1160-214delinsCTATT
NM_001014975.3:c.1160-218_1160-214delinsCTATT	NP_001014975.1:n.1160-218_1160-214delinsCTATT