Canonical Allele Identifier: CA2649646850
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196743647_196743650dup , CM000663.2:g.196743647_196743650dup GRCh38
NC_000001.10:g.196712777_196712780dup , CM000663.1:g.196712777_196712780dup GRCh37
NC_000001.9:g.194979400_194979403dup NCBI36
NG_007259.1:g.96637_96640dup , LRG_47:g.96637_96640dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.4338+19_4338+22dup
ENST00000695970.1:c.3136+19_3136+22dup ENSP00000512297.1:n.3136+19_3136+22dup
ENST00000695971.1:c.3289+19_3289+22dup ENSP00000512298.1:n.3289+19_3289+22dup
ENST00000695972.1:c.*387+19_*387+22dup ENSP00000512299.1:n.*387+19_*387+22dup
ENST00000695973.1:c.*1674+19_*1674+22dup ENSP00000512300.1:n.*1674+19_*1674+22dup
ENST00000695974.1:c.3133+19_3133+22dup ENSP00000512301.1:n.3133+19_3133+22dup
ENST00000695975.1:c.*1437+19_*1437+22dup ENSP00000512302.1:n.*1437+19_*1437+22dup
ENST00000695976.1:c.3121+19_3121+22dup ENSP00000512303.1:n.3121+19_3121+22dup
ENST00000695981.1:c.3310+19_3310+22dup ENSP00000512306.1:n.3310+19_3310+22dup
ENST00000695984.1:c.1318+19_1318+22dup ENSP00000512309.1:n.1318+19_1318+22dup
ENST00000695986.1:c.*2961+19_*2961+22dup ENSP00000512311.1:n.*2961+19_*2961+22dup
ENST00000696026.1:c.*1592+19_*1592+22dup ENSP00000512335.1:n.*1592+19_*1592+22dup
ENST00000696027.1:c.3304+19_3304+22dup ENSP00000512336.1:n.3304+19_3304+22dup
ENST00000696028.1:c.3238+19_3238+22dup ENSP00000512337.1:n.3238+19_3238+22dup
ENST00000696029.1:c.3304+19_3304+22dup ENSP00000512338.1:n.3304+19_3304+22dup
ENST00000696031.1:c.*2828+19_*2828+22dup ENSP00000512340.1:n.*2828+19_*2828+22dup
ENST00000696032.1:c.3310+19_3310+22dup ENSP00000512341.1:n.3310+19_3310+22dup
ENST00000696033.1:c.1160-36150_1160-36147dup ENSP00000512342.1:n.1160-36150_1160-36147dup
ENST00000367429.9:c.3310+19_3310+22dup MANE Select ENSP00000356399.4:n.3310+19_3310+22dup
ENST00000367429.8:c.3310+19_3310+22dup ENSP00000356399.4:n.3310+19_3310+22dup
ENST00000466229.5:n.6408+19_6408+22dup
NM_000186.3:c.3310+19_3310+22dup , LRG_47t1:c.3310+19_3310+22dup NP_000177.2:n.3310+19_3310+22dup
XR_001737134.2:n.3496+19_3496+22dup
NM_000186.4:c.3310+19_3310+22dup MANE Select NP_000177.2:n.3310+19_3310+22dup