Canonical Allele Identifier: CA1217770756
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747168C= , CM000663.2:g.196747168C= GRCh38
NC_000001.10:g.196716298C= , CM000663.1:g.196716298C= GRCh37
NC_000001.9:g.194982921C= NCBI36
NG_007259.1:g.100158C= , LRG_47:g.100158C=

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4579C=
ENST00000695970.1:c.3377C= ENSP00000512297.1:p.Thr1126=
ENST00000695971.1:c.3530C= ENSP00000512298.1:p.Thr1177=
ENST00000695972.1:c.*628C= ENSP00000512299.1:n.*628C=
ENST00000695973.1:c.*1915C= ENSP00000512300.1:n.*1915C=
ENST00000695974.1:c.3374C= ENSP00000512301.1:p.Thr1125=
ENST00000695975.1:c.*1678C= ENSP00000512302.1:n.*1678C=
ENST00000695976.1:c.3362C= ENSP00000512303.1:p.Thr1121=
ENST00000695981.1:c.3551C= ENSP00000512306.1:p.Thr1184=
ENST00000695984.1:c.1559C= ENSP00000512309.1:p.Thr520=
ENST00000695986.1:c.*3202C= ENSP00000512311.1:n.*3202C=
ENST00000695990.1:n.585C=
ENST00000696026.1:c.*1833C= ENSP00000512335.1:n.*1833C=
ENST00000696027.1:c.3545C= ENSP00000512336.1:p.Thr1182=
ENST00000696028.1:c.3479C= ENSP00000512337.1:p.Thr1160=
ENST00000696029.1:c.3545C= ENSP00000512338.1:p.Thr1182=
ENST00000696031.1:c.*3069C= ENSP00000512340.1:n.*3069C=
ENST00000696032.1:c.3551C= ENSP00000512341.1:p.Thr1184=
ENST00000696033.1:c.1160-32629C= ENSP00000512342.1:n.1160-32629C=
ENST00000367429.9:c.3551C= MANE Select ENSP00000356399.4:p.Thr1184=
ENST00000367429.8:c.3551C= ENSP00000356399.4:p.Thr1184=
ENST00000466229.5:n.6649C=
NM_000186.3:c.3551C= , LRG_47t1:c.3551C= NP_000177.2:p.Thr1184=
XR_001737134.2:n.3737C=
NM_000186.4:c.3551C= MANE Select NP_000177.2:p.Thr1184=