Canonical Allele Identifier: CA343987447
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747166G>T , CM000663.2:g.196747166G>T GRCh38
NC_000001.10:g.196716296G>T , CM000663.1:g.196716296G>T GRCh37
NC_000001.9:g.194982919G>T NCBI36
NG_007259.1:g.100156G>T , LRG_47:g.100156G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4577G>T
ENST00000695970.1:c.3375G>T ENSP00000512297.1:p.Trp1125Cys
ENST00000695971.1:c.3528G>T ENSP00000512298.1:p.Trp1176Cys
ENST00000695972.1:c.*626G>T ENSP00000512299.1:n.*626G>T
ENST00000695973.1:c.*1913G>T ENSP00000512300.1:n.*1913G>T
ENST00000695974.1:c.3372G>T ENSP00000512301.1:p.Trp1124Cys
ENST00000695975.1:c.*1676G>T ENSP00000512302.1:n.*1676G>T
ENST00000695976.1:c.3360G>T ENSP00000512303.1:p.Trp1120Cys
ENST00000695981.1:c.3549G>T ENSP00000512306.1:p.Trp1183Cys
ENST00000695984.1:c.1557G>T ENSP00000512309.1:p.Trp519Cys
ENST00000695986.1:c.*3200G>T ENSP00000512311.1:n.*3200G>T
ENST00000695990.1:n.583G>T
ENST00000696026.1:c.*1831G>T ENSP00000512335.1:n.*1831G>T
ENST00000696027.1:c.3543G>T ENSP00000512336.1:p.Trp1181Cys
ENST00000696028.1:c.3477G>T ENSP00000512337.1:p.Trp1159Cys
ENST00000696029.1:c.3543G>T ENSP00000512338.1:p.Trp1181Cys
ENST00000696031.1:c.*3067G>T ENSP00000512340.1:n.*3067G>T
ENST00000696032.1:c.3549G>T ENSP00000512341.1:p.Trp1183Cys
ENST00000696033.1:c.1160-32631G>T ENSP00000512342.1:n.1160-32631G>T
ENST00000367429.9:c.3549G>T MANE Select ENSP00000356399.4:p.Trp1183Cys
ENST00000367429.8:c.3549G>T ENSP00000356399.4:p.Trp1183Cys
ENST00000466229.5:n.6647G>T
NM_000186.3:c.3549G>T , LRG_47t1:c.3549G>T NP_000177.2:p.Trp1183Cys
XR_001737134.2:n.3735G>T
NM_000186.4:c.3549G>T MANE Select NP_000177.2:p.Trp1183Cys