Canonical Allele Identifier: CA1217769259

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196744045_196744047delinsCTG , CM000663.2:g.196744045_196744047delinsCTG	GRCh38
NC_000001.10:g.196713175_196713177delinsCTG , CM000663.1:g.196713175_196713177delinsCTG	GRCh37
NC_000001.9:g.194979798_194979800delinsCTG	NCBI36
NG_007259.1:g.97035_97037delinsCTG , LRG_47:g.97035_97037delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+417_4338+419delinsCTG
ENST00000695970.1:c.3136+417_3136+419delinsCTG	ENSP00000512297.1:n.3136+417_3136+419delinsCTG
ENST00000695971.1:c.3289+417_3289+419delinsCTG	ENSP00000512298.1:n.3289+417_3289+419delinsCTG
ENST00000695972.1:c.*387+417_*387+419delinsCTG	ENSP00000512299.1:n.*387+417_*387+419delinsCTG
ENST00000695973.1:c.*1674+417_*1674+419delinsCTG	ENSP00000512300.1:n.*1674+417_*1674+419delinsCTG
ENST00000695974.1:c.3133+417_3133+419delinsCTG	ENSP00000512301.1:n.3133+417_3133+419delinsCTG
ENST00000695975.1:c.*1437+417_*1437+419delinsCTG	ENSP00000512302.1:n.*1437+417_*1437+419delinsCTG
ENST00000695976.1:c.3121+417_3121+419delinsCTG	ENSP00000512303.1:n.3121+417_3121+419delinsCTG
ENST00000695981.1:c.3310+417_3310+419delinsCTG	ENSP00000512306.1:n.3310+417_3310+419delinsCTG
ENST00000695984.1:c.1318+417_1318+419delinsCTG	ENSP00000512309.1:n.1318+417_1318+419delinsCTG
ENST00000695986.1:c.*2961+417_*2961+419delinsCTG	ENSP00000512311.1:n.*2961+417_*2961+419delinsCTG
ENST00000696026.1:c.*1592+417_*1592+419delinsCTG	ENSP00000512335.1:n.*1592+417_*1592+419delinsCTG
ENST00000696027.1:c.3304+417_3304+419delinsCTG	ENSP00000512336.1:n.3304+417_3304+419delinsCTG
ENST00000696028.1:c.3238+417_3238+419delinsCTG	ENSP00000512337.1:n.3238+417_3238+419delinsCTG
ENST00000696029.1:c.3304+417_3304+419delinsCTG	ENSP00000512338.1:n.3304+417_3304+419delinsCTG
ENST00000696031.1:c.*2828+417_*2828+419delinsCTG	ENSP00000512340.1:n.*2828+417_*2828+419delinsCTG
ENST00000696032.1:c.3310+417_3310+419delinsCTG	ENSP00000512341.1:n.3310+417_3310+419delinsCTG
ENST00000696033.1:c.1160-35752_1160-35750delinsCTG	ENSP00000512342.1:n.1160-35752_1160-35750delinsCTG
ENST00000367429.9:c.3310+417_3310+419delinsCTG MANE Select	ENSP00000356399.4:n.3310+417_3310+419delinsCTG
ENST00000367429.8:c.3310+417_3310+419delinsCTG	ENSP00000356399.4:n.3310+417_3310+419delinsCTG
ENST00000466229.5:n.6408+417_6408+419delinsCTG
NM_000186.3:c.3310+417_3310+419delinsCTG , LRG_47t1:c.3310+417_3310+419delinsCTG	NP_000177.2:n.3310+417_3310+419delinsCTG
XR_001737134.2:n.3496+417_3496+419delinsCTG
NM_000186.4:c.3310+417_3310+419delinsCTG MANE Select	NP_000177.2:n.3310+417_3310+419delinsCTG