Canonical Allele Identifier: CA2513511067
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196704885_196704886insAAT , CM000663.2:g.196704885_196704886insAAT GRCh38
NC_000001.10:g.196674015_196674016insAAT , CM000663.1:g.196674015_196674016insAAT GRCh37
NC_000001.9:g.194940638_194940639insAAT NCBI36
NG_007259.1:g.57875_57876insAAT , LRG_47:g.57875_57876insAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.1603-8850_1603-8849insAAT
ENST00000695969.1:c.1337-8850_1337-8849insAAT ENSP00000512296.1:n.1337-8850_1337-8849in...
ENST00000695970.1:c.1337-8850_1337-8849insAAT ENSP00000512297.1:n.1337-8850_1337-8849in...
ENST00000695971.1:c.1316-8850_1316-8849insAAT ENSP00000512298.1:n.1316-8850_1316-8849in...
ENST00000695972.1:c.1337-8850_1337-8849insAAT ENSP00000512299.1:n.1337-8850_1337-8849in...
ENST00000695973.1:c.1337-8850_1337-8849insAAT ENSP00000512300.1:n.1337-8850_1337-8849in...
ENST00000695974.1:c.1337-8850_1337-8849insAAT ENSP00000512301.1:n.1337-8850_1337-8849in...
ENST00000695975.1:c.1337-8850_1337-8849insAAT ENSP00000512302.1:n.1337-8850_1337-8849in...
ENST00000695976.1:c.1148-8850_1148-8849insAAT ENSP00000512303.1:n.1148-8850_1148-8849in...
ENST00000695980.1:n.1457-1093_1457-1092insAAT
ENST00000695981.1:c.1337-8850_1337-8849insAAT ENSP00000512306.1:n.1337-8850_1337-8849in...
ENST00000695983.1:c.1337-8850_1337-8849insAAT ENSP00000512308.1:n.1337-8850_1337-8849in...
ENST00000695984.1:c.245-23461_245-23460insAAT ENSP00000512309.1:n.245-23461_245-23460in...
ENST00000695986.1:c.*988-8850_*988-8849insAAT ENSP00000512311.1:n.*988-8850_*988-8849in...
ENST00000696024.1:n.1421-8850_1421-8849insAAT
ENST00000696025.1:n.1421-8850_1421-8849insAAT
ENST00000696026.1:c.1337-8850_1337-8849insAAT ENSP00000512335.1:n.1337-8850_1337-8849in...
ENST00000696027.1:c.1337-8850_1337-8849insAAT ENSP00000512336.1:n.1337-8850_1337-8849in...
ENST00000696028.1:c.1337-8850_1337-8849insAAT ENSP00000512337.1:n.1337-8850_1337-8849in...
ENST00000696029.1:c.1337-8850_1337-8849insAAT ENSP00000512338.1:n.1337-8850_1337-8849in...
ENST00000696031.1:c.*855-8850_*855-8849insAAT ENSP00000512340.1:n.*855-8850_*855-8849in...
ENST00000696032.1:c.1337-8850_1337-8849insAAT ENSP00000512341.1:n.1337-8850_1337-8849in...
ENST00000696033.1:c.1159+15271_1159+15272insAAT ENSP00000512342.1:n.1159+15271_1159+15272...
ENST00000367429.9:c.1337-8850_1337-8849insAAT MANE Select ENSP00000356399.4:n.1337-8850_1337-8849in...
ENST00000367429.8:c.1337-8850_1337-8849insAAT ENSP00000356399.4:n.1337-8850_1337-8849in...
ENST00000466229.5:n.3353-8850_3353-8849insAAT
NM_000186.3:c.1337-8850_1337-8849insAAT , LRG_47t1:c.1337-8850_1337-8849insAAT NP_000177.2:n.1337-8850_1337-8849insAAT
XR_001737134.2:n.1422-8850_1422-8849insAAT
NM_000186.4:c.1337-8850_1337-8849insAAT MANE Select NP_000177.2:n.1337-8850_1337-8849insAAT