Canonical Allele Identifier: CA1305760
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 294510
dbSNP Id: rs149474608

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196740686G>T , CM000663.2:g.196740686G>T GRCh38
NC_000001.10:g.196709816G>T , CM000663.1:g.196709816G>T GRCh37
NC_000001.9:g.194976439G>T NCBI36
NG_007259.1:g.93676G>T , LRG_47:g.93676G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.3116G>T
ENST00000695970.1:c.2783-1189G>T ENSP00000512297.1:n.2783-1189G>T
ENST00000695971.1:c.2829G>T ENSP00000512298.1:p.Gln943His
ENST00000695972.1:c.2255G>T ENSP00000512299.1:p.Ser752Ile
ENST00000695973.1:c.*1214G>T ENSP00000512300.1:n.*1214G>T
ENST00000695974.1:c.2673G>T ENSP00000512301.1:p.Gln891His
ENST00000695975.1:c.*977G>T ENSP00000512302.1:n.*977G>T
ENST00000695976.1:c.2661G>T ENSP00000512303.1:p.Gln887His
ENST00000695981.1:c.2850G>T ENSP00000512306.1:p.Gln950His
ENST00000695983.1:c.2850G>T ENSP00000512308.1:p.Gln950His
ENST00000695984.1:c.858G>T ENSP00000512309.1:p.Gln286His
ENST00000695986.1:c.*2501G>T ENSP00000512311.1:n.*2501G>T
ENST00000696025.1:n.2934G>T
ENST00000696026.1:c.*1132G>T ENSP00000512335.1:n.*1132G>T
ENST00000696027.1:c.2844G>T ENSP00000512336.1:p.Gln948His
ENST00000696028.1:c.2850G>T ENSP00000512337.1:p.Gln950His
ENST00000696029.1:c.2850G>T ENSP00000512338.1:p.Gln950His
ENST00000696031.1:c.*2368G>T ENSP00000512340.1:n.*2368G>T
ENST00000696032.1:c.2850G>T ENSP00000512341.1:p.Gln950His
ENST00000696033.1:c.1160-39111G>T ENSP00000512342.1:n.1160-39111G>T
ENST00000367429.9:c.2850G>T MANE Select ENSP00000356399.4:p.Gln950His
ENST00000367429.8:c.2850G>T ENSP00000356399.4:p.Gln950His
ENST00000466229.5:n.4866G>T
ENST00000470918.1:n.353G>T
NM_000186.3:c.2850G>T , LRG_47t1:c.2850G>T NP_000177.2:p.Gln950His
XR_001737134.2:n.3036G>T
NM_000186.4:c.2850G>T MANE Select NP_000177.2:p.Gln950His