Canonical Allele Identifier: CA1140574518
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196726047_196726049delinsGGG , CM000663.2:g.196726047_196726049delinsGGG GRCh38
NC_000001.10:g.196695177_196695179delinsGGG , CM000663.1:g.196695177_196695179delinsGGG GRCh37
NC_000001.9:g.194961800_194961802delinsGGG NCBI36
NG_007259.1:g.79037_79039delinsGGG , LRG_47:g.79037_79039delinsGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.2140-423_2140-421delinsGGG
ENST00000695969.1:c.1874-423_1874-421delinsGGG ENSP00000512296.1:n.1874-423_1874-421deli...
ENST00000695970.1:c.1874-423_1874-421delinsGGG ENSP00000512297.1:n.1874-423_1874-421deli...
ENST00000695971.1:c.1853-423_1853-421delinsGGG ENSP00000512298.1:n.1853-423_1853-421deli...
ENST00000695972.1:c.1874-423_1874-421delinsGGG ENSP00000512299.1:n.1874-423_1874-421deli...
ENST00000695973.1:c.*238-423_*238-421delinsGGG ENSP00000512300.1:n.*238-423_*238-421deli...
ENST00000695974.1:c.1697-423_1697-421delinsGGG ENSP00000512301.1:n.1697-423_1697-421deli...
ENST00000695975.1:c.1874-409_1874-407delinsGGG ENSP00000512302.1:n.1874-409_1874-407deli...
ENST00000695976.1:c.1685-423_1685-421delinsGGG ENSP00000512303.1:n.1685-423_1685-421deli...
ENST00000695981.1:c.1874-423_1874-421delinsGGG ENSP00000512306.1:n.1874-423_1874-421deli...
ENST00000695983.1:c.1874-423_1874-421delinsGGG ENSP00000512308.1:n.1874-423_1874-421deli...
ENST00000695984.1:c.245-2299_245-2297delinsGGG ENSP00000512309.1:n.245-2299_245-2297deli...
ENST00000695986.1:c.*1525-423_*1525-421delinsGGG ENSP00000512311.1:n.*1525-423_*1525-421de...
ENST00000696025.1:n.1958-423_1958-421delinsGGG
ENST00000696026.1:c.*156-423_*156-421delinsGGG ENSP00000512335.1:n.*156-423_*156-421deli...
ENST00000696027.1:c.1874-423_1874-421delinsGGG ENSP00000512336.1:n.1874-423_1874-421deli...
ENST00000696028.1:c.1874-423_1874-421delinsGGG ENSP00000512337.1:n.1874-423_1874-421deli...
ENST00000696029.1:c.1874-423_1874-421delinsGGG ENSP00000512338.1:n.1874-423_1874-421deli...
ENST00000696031.1:c.*1392-423_*1392-421delinsGGG ENSP00000512340.1:n.*1392-423_*1392-421de...
ENST00000696032.1:c.1874-423_1874-421delinsGGG ENSP00000512341.1:n.1874-423_1874-421deli...
ENST00000696033.1:c.1159+36433_1159+36435delinsGGG ENSP00000512342.1:n.1159+36433_1159+36435...
ENST00000367429.9:c.1874-423_1874-421delinsGGG MANE Select ENSP00000356399.4:n.1874-423_1874-421deli...
ENST00000367429.8:c.1874-423_1874-421delinsGGG ENSP00000356399.4:n.1874-423_1874-421deli...
ENST00000466229.5:n.3890-423_3890-421delinsGGG
NM_000186.3:c.1874-423_1874-421delinsGGG , LRG_47t1:c.1874-423_1874-421delinsGGG NP_000177.2:n.1874-423_1874-421delinsGGG
XR_001737134.2:n.2060-423_2060-421delinsGGG
NM_000186.4:c.1874-423_1874-421delinsGGG MANE Select NP_000177.2:n.1874-423_1874-421delinsGGG