Canonical Allele Identifier: CA2747230462

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196729781_196729782del , CM000663.2:g.196729781_196729782del	GRCh38
NC_000001.10:g.196698911_196698912del , CM000663.1:g.196698911_196698912del	GRCh37
NC_000001.9:g.194965534_194965535del	NCBI36
NG_007259.1:g.82771_82772del , LRG_47:g.82771_82772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2679+1259_2679+1260del
ENST00000695969.1:c.2413+1259_2413+1260del	ENSP00000512296.1:n.2413+1259_2413+1260de...
ENST00000695970.1:c.2413+1259_2413+1260del	ENSP00000512297.1:n.2413+1259_2413+1260de...
ENST00000695971.1:c.2392+1259_2392+1260del	ENSP00000512298.1:n.2392+1259_2392+1260de...
ENST00000695972.1:c.2232+2845_2232+2846del	ENSP00000512299.1:n.2232+2845_2232+2846de...
ENST00000695973.1:c.*777+1259_*777+1260del	ENSP00000512300.1:n.*777+1259_*777+1260de...
ENST00000695974.1:c.2236+1259_2236+1260del	ENSP00000512301.1:n.2236+1259_2236+1260de...
ENST00000695975.1:c.*540+1259_*540+1260del	ENSP00000512302.1:n.*540+1259_*540+1260de...
ENST00000695976.1:c.2224+1259_2224+1260del	ENSP00000512303.1:n.2224+1259_2224+1260de...
ENST00000695981.1:c.2413+1259_2413+1260del	ENSP00000512306.1:n.2413+1259_2413+1260de...
ENST00000695983.1:c.2413+1259_2413+1260del	ENSP00000512308.1:n.2413+1259_2413+1260de...
ENST00000695984.1:c.421+1259_421+1260del	ENSP00000512309.1:n.421+1259_421+1260del
ENST00000695986.1:c.*2064+1259_*2064+1260del	ENSP00000512311.1:n.*2064+1259_*2064+1260...
ENST00000696025.1:n.2497+1259_2497+1260del
ENST00000696026.1:c.*695+1259_*695+1260del	ENSP00000512335.1:n.*695+1259_*695+1260de...
ENST00000696027.1:c.2407+1259_2407+1260del	ENSP00000512336.1:n.2407+1259_2407+1260de...
ENST00000696028.1:c.2413+1259_2413+1260del	ENSP00000512337.1:n.2413+1259_2413+1260de...
ENST00000696029.1:c.2413+1259_2413+1260del	ENSP00000512338.1:n.2413+1259_2413+1260de...
ENST00000696031.1:c.*1931+1259_*1931+1260del	ENSP00000512340.1:n.*1931+1259_*1931+1260...
ENST00000696032.1:c.2413+1259_2413+1260del	ENSP00000512341.1:n.2413+1259_2413+1260de...
ENST00000696033.1:c.1159+40167_1159+40168del	ENSP00000512342.1:n.1159+40167_1159+40168...
ENST00000367429.9:c.2413+1259_2413+1260del MANE Select	ENSP00000356399.4:n.2413+1259_2413+1260de...
ENST00000367429.8:c.2413+1259_2413+1260del	ENSP00000356399.4:n.2413+1259_2413+1260de...
ENST00000466229.5:n.4429+1259_4429+1260del
NM_000186.3:c.2413+1259_2413+1260del , LRG_47t1:c.2413+1259_2413+1260del	NP_000177.2:n.2413+1259_2413+1260del
XR_001737134.2:n.2599+1259_2599+1260del
NM_000186.4:c.2413+1259_2413+1260del MANE Select	NP_000177.2:n.2413+1259_2413+1260del