Canonical Allele Identifier: CA2562593770

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743789_196743790del , CM000663.2:g.196743789_196743790del	GRCh38
NC_000001.10:g.196712919_196712920del , CM000663.1:g.196712919_196712920del	GRCh37
NC_000001.9:g.194979542_194979543del	NCBI36
NG_007259.1:g.96779_96780del , LRG_47:g.96779_96780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+161_4338+162del
ENST00000695970.1:c.3136+161_3136+162del	ENSP00000512297.1:n.3136+161_3136+162del
ENST00000695971.1:c.3289+161_3289+162del	ENSP00000512298.1:n.3289+161_3289+162del
ENST00000695972.1:c.*387+161_*387+162del	ENSP00000512299.1:n.*387+161_*387+162del
ENST00000695973.1:c.*1674+161_*1674+162del	ENSP00000512300.1:n.*1674+161_*1674+162del
ENST00000695974.1:c.3133+161_3133+162del	ENSP00000512301.1:n.3133+161_3133+162del
ENST00000695975.1:c.*1437+161_*1437+162del	ENSP00000512302.1:n.*1437+161_*1437+162del
ENST00000695976.1:c.3121+161_3121+162del	ENSP00000512303.1:n.3121+161_3121+162del
ENST00000695981.1:c.3310+161_3310+162del	ENSP00000512306.1:n.3310+161_3310+162del
ENST00000695984.1:c.1318+161_1318+162del	ENSP00000512309.1:n.1318+161_1318+162del
ENST00000695986.1:c.*2961+161_*2961+162del	ENSP00000512311.1:n.*2961+161_*2961+162del
ENST00000696026.1:c.*1592+161_*1592+162del	ENSP00000512335.1:n.*1592+161_*1592+162del
ENST00000696027.1:c.3304+161_3304+162del	ENSP00000512336.1:n.3304+161_3304+162del
ENST00000696028.1:c.3238+161_3238+162del	ENSP00000512337.1:n.3238+161_3238+162del
ENST00000696029.1:c.3304+161_3304+162del	ENSP00000512338.1:n.3304+161_3304+162del
ENST00000696031.1:c.*2828+161_*2828+162del	ENSP00000512340.1:n.*2828+161_*2828+162del
ENST00000696032.1:c.3310+161_3310+162del	ENSP00000512341.1:n.3310+161_3310+162del
ENST00000696033.1:c.1160-36008_1160-36007del	ENSP00000512342.1:n.1160-36008_1160-36007del
ENST00000367429.9:c.3310+161_3310+162del MANE Select	ENSP00000356399.4:n.3310+161_3310+162del
ENST00000367429.8:c.3310+161_3310+162del	ENSP00000356399.4:n.3310+161_3310+162del
ENST00000466229.5:n.6408+161_6408+162del
NM_000186.3:c.3310+161_3310+162del , LRG_47t1:c.3310+161_3310+162del	NP_000177.2:n.3310+161_3310+162del
XR_001737134.2:n.3496+161_3496+162del
NM_000186.4:c.3310+161_3310+162del MANE Select	NP_000177.2:n.3310+161_3310+162del