Canonical Allele Identifier: CA343989428
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747296A>T , CM000663.2:g.196747296A>T GRCh38
NC_000001.10:g.196716426A>T , CM000663.1:g.196716426A>T GRCh37
NC_000001.9:g.194983049A>T NCBI36
NG_007259.1:g.100286A>T , LRG_47:g.100286A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4707A>T
ENST00000695970.1:c.3505A>T ENSP00000512297.1:p.Thr1169Ser
ENST00000695971.1:c.3658A>T ENSP00000512298.1:p.Thr1220Ser
ENST00000695972.1:c.*756A>T ENSP00000512299.1:n.*756A>T
ENST00000695973.1:c.*2043A>T ENSP00000512300.1:n.*2043A>T
ENST00000695974.1:c.3502A>T ENSP00000512301.1:p.Thr1168Ser
ENST00000695975.1:c.*1806A>T ENSP00000512302.1:n.*1806A>T
ENST00000695976.1:c.3490A>T ENSP00000512303.1:p.Thr1164Ser
ENST00000695981.1:c.3580+99A>T ENSP00000512306.1:n.3580+99A>T
ENST00000695984.1:c.1687A>T ENSP00000512309.1:p.Thr563Ser
ENST00000695986.1:c.*3330A>T ENSP00000512311.1:n.*3330A>T
ENST00000695990.1:n.713A>T
ENST00000696026.1:c.*1961A>T ENSP00000512335.1:n.*1961A>T
ENST00000696027.1:c.3673A>T ENSP00000512336.1:p.Thr1225Ser
ENST00000696028.1:c.3607A>T ENSP00000512337.1:p.Thr1203Ser
ENST00000696029.1:c.3673A>T ENSP00000512338.1:p.Thr1225Ser
ENST00000696031.1:c.*3197A>T ENSP00000512340.1:n.*3197A>T
ENST00000696032.1:c.3580+99A>T ENSP00000512341.1:n.3580+99A>T
ENST00000696033.1:c.1160-32501A>T ENSP00000512342.1:n.1160-32501A>T
ENST00000367429.9:c.3679A>T MANE Select ENSP00000356399.4:p.Thr1227Ser
ENST00000367429.8:c.3679A>T ENSP00000356399.4:p.Thr1227Ser
ENST00000466229.5:n.6777A>T
NM_000186.3:c.3679A>T , LRG_47t1:c.3679A>T NP_000177.2:p.Thr1227Ser
XR_001737134.2:n.3865A>T
NM_000186.4:c.3679A>T MANE Select NP_000177.2:p.Thr1227Ser