Canonical Allele Identifier: CA1217770787
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747261_196747264delinsGAAC , CM000663.2:g.196747261_196747264delinsGAAC GRCh38
NC_000001.10:g.196716391_196716394delinsGAAC , CM000663.1:g.196716391_196716394delinsGAAC GRCh37
NC_000001.9:g.194983014_194983017delinsGAAC NCBI36
NG_007259.1:g.100251_100254delinsGAAC , LRG_47:g.100251_100254delinsGAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4672_4675delinsGAAC
ENST00000695970.1:c.3470_3473delinsGAAC ENSP00000512297.1:p.Arg1157=
ENST00000695971.1:c.3623_3626delinsGAAC ENSP00000512298.1:p.Arg1208=
ENST00000695972.1:c.*721_*724delinsGAAC ENSP00000512299.1:n.*721_*724delinsGAAC
ENST00000695973.1:c.*2008_*2011delinsGAAC ENSP00000512300.1:n.*2008_*2011delinsGAAC...
ENST00000695974.1:c.3467_3470delinsGAAC ENSP00000512301.1:p.Arg1156=
ENST00000695975.1:c.*1771_*1774delinsGAAC ENSP00000512302.1:n.*1771_*1774delinsGAAC...
ENST00000695976.1:c.3455_3458delinsGAAC ENSP00000512303.1:p.Arg1152=
ENST00000695981.1:c.3580+64_3580+67delinsGAAC ENSP00000512306.1:n.3580+64_3580+67delins...
ENST00000695984.1:c.1652_1655delinsGAAC ENSP00000512309.1:p.Arg551=
ENST00000695986.1:c.*3295_*3298delinsGAAC ENSP00000512311.1:n.*3295_*3298delinsGAAC...
ENST00000695990.1:n.678_681delinsGAAC
ENST00000696026.1:c.*1926_*1929delinsGAAC ENSP00000512335.1:n.*1926_*1929delinsGAAC...
ENST00000696027.1:c.3638_3641delinsGAAC ENSP00000512336.1:p.Arg1213=
ENST00000696028.1:c.3572_3575delinsGAAC ENSP00000512337.1:p.Arg1191=
ENST00000696029.1:c.3638_3641delinsGAAC ENSP00000512338.1:p.Arg1213=
ENST00000696031.1:c.*3162_*3165delinsGAAC ENSP00000512340.1:n.*3162_*3165delinsGAAC...
ENST00000696032.1:c.3580+64_3580+67delinsGAAC ENSP00000512341.1:n.3580+64_3580+67delins...
ENST00000696033.1:c.1160-32536_1160-32533delinsGAAC ENSP00000512342.1:n.1160-32536_1160-32533...
ENST00000367429.9:c.3644_3647delinsGAAC MANE Select ENSP00000356399.4:p.Arg1215=
ENST00000367429.8:c.3644_3647delinsGAAC ENSP00000356399.4:p.Arg1215=
ENST00000466229.5:n.6742_6745delinsGAAC
NM_000186.3:c.3644_3647delinsGAAC , LRG_47t1:c.3644_3647delinsGAAC NP_000177.2:p.Arg1215=
XR_001737134.2:n.3830_3833delinsGAAC
NM_000186.4:c.3644_3647delinsGAAC MANE Select NP_000177.2:p.Arg1215=