Canonical Allele Identifier: CA916374263
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1573082827

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196743435_196743437del , CM000663.2:g.196743435_196743437del GRCh38
NC_000001.10:g.196712565_196712567del , CM000663.1:g.196712565_196712567del GRCh37
NC_000001.9:g.194979188_194979190del NCBI36
NG_007259.1:g.96425_96427del , LRG_47:g.96425_96427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.4162-17_4162-15del
ENST00000695970.1:c.2960-17_2960-15del ENSP00000512297.1:n.2960-17_2960-15del
ENST00000695971.1:c.3113-17_3113-15del ENSP00000512298.1:n.3113-17_3113-15del
ENST00000695972.1:c.*211-17_*211-15del ENSP00000512299.1:n.*211-17_*211-15del
ENST00000695973.1:c.*1498-17_*1498-15del ENSP00000512300.1:n.*1498-17_*1498-15del
ENST00000695974.1:c.2957-17_2957-15del ENSP00000512301.1:n.2957-17_2957-15del
ENST00000695975.1:c.*1261-17_*1261-15del ENSP00000512302.1:n.*1261-17_*1261-15del
ENST00000695976.1:c.2945-17_2945-15del ENSP00000512303.1:n.2945-17_2945-15del
ENST00000695981.1:c.3134-17_3134-15del ENSP00000512306.1:n.3134-17_3134-15del
ENST00000695984.1:c.1142-17_1142-15del ENSP00000512309.1:n.1142-17_1142-15del
ENST00000695986.1:c.*2785-17_*2785-15del ENSP00000512311.1:n.*2785-17_*2785-15del
ENST00000696026.1:c.*1416-17_*1416-15del ENSP00000512335.1:n.*1416-17_*1416-15del
ENST00000696027.1:c.3128-17_3128-15del ENSP00000512336.1:n.3128-17_3128-15del
ENST00000696028.1:c.3062-17_3062-15del ENSP00000512337.1:n.3062-17_3062-15del
ENST00000696029.1:c.3128-17_3128-15del ENSP00000512338.1:n.3128-17_3128-15del
ENST00000696031.1:c.*2652-17_*2652-15del ENSP00000512340.1:n.*2652-17_*2652-15del
ENST00000696032.1:c.3134-17_3134-15del ENSP00000512341.1:n.3134-17_3134-15del
ENST00000696033.1:c.1160-36362_1160-36360del ENSP00000512342.1:n.1160-36362_1160-36360del
ENST00000367429.9:c.3134-17_3134-15del MANE Select ENSP00000356399.4:n.3134-17_3134-15del
ENST00000367429.8:c.3134-17_3134-15del ENSP00000356399.4:n.3134-17_3134-15del
ENST00000466229.5:n.6232-17_6232-15del
NM_000186.3:c.3134-17_3134-15del , LRG_47t1:c.3134-17_3134-15del NP_000177.2:n.3134-17_3134-15del
XR_001737134.2:n.3320-17_3320-15del
NM_000186.4:c.3134-17_3134-15del MANE Select NP_000177.2:n.3134-17_3134-15del