Canonical Allele Identifier: CA343986968
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747117G>T , CM000663.2:g.196747117G>T GRCh38
NC_000001.10:g.196716247G>T , CM000663.1:g.196716247G>T GRCh37
NC_000001.9:g.194982870G>T NCBI36
NG_007259.1:g.100107G>T , LRG_47:g.100107G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4528G>T
ENST00000695970.1:c.3326G>T ENSP00000512297.1:p.Cys1109Phe
ENST00000695971.1:c.3479G>T ENSP00000512298.1:p.Cys1160Phe
ENST00000695972.1:c.*577G>T ENSP00000512299.1:n.*577G>T
ENST00000695973.1:c.*1864G>T ENSP00000512300.1:n.*1864G>T
ENST00000695974.1:c.3323G>T ENSP00000512301.1:p.Cys1108Phe
ENST00000695975.1:c.*1627G>T ENSP00000512302.1:n.*1627G>T
ENST00000695976.1:c.3311G>T ENSP00000512303.1:p.Cys1104Phe
ENST00000695981.1:c.3500G>T ENSP00000512306.1:p.Cys1167Phe
ENST00000695984.1:c.1508G>T ENSP00000512309.1:p.Cys503Phe
ENST00000695986.1:c.*3151G>T ENSP00000512311.1:n.*3151G>T
ENST00000695990.1:n.534G>T
ENST00000696026.1:c.*1782G>T ENSP00000512335.1:n.*1782G>T
ENST00000696027.1:c.3494G>T ENSP00000512336.1:p.Cys1165Phe
ENST00000696028.1:c.3428G>T ENSP00000512337.1:p.Cys1143Phe
ENST00000696029.1:c.3494G>T ENSP00000512338.1:p.Cys1165Phe
ENST00000696031.1:c.*3018G>T ENSP00000512340.1:n.*3018G>T
ENST00000696032.1:c.3500G>T ENSP00000512341.1:p.Cys1167Phe
ENST00000696033.1:c.1160-32680G>T ENSP00000512342.1:n.1160-32680G>T
ENST00000367429.9:c.3500G>T MANE Select ENSP00000356399.4:p.Cys1167Phe
ENST00000367429.8:c.3500G>T ENSP00000356399.4:p.Cys1167Phe
ENST00000466229.5:n.6598G>T
NM_000186.3:c.3500G>T , LRG_47t1:c.3500G>T NP_000177.2:p.Cys1167Phe
XR_001737134.2:n.3686G>T
NM_000186.4:c.3500G>T MANE Select NP_000177.2:p.Cys1167Phe