Canonical Allele Identifier: CA343988262
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747263A>G , CM000663.2:g.196747263A>G GRCh38
NC_000001.10:g.196716393A>G , CM000663.1:g.196716393A>G GRCh37
NC_000001.9:g.194983016A>G NCBI36
NG_007259.1:g.100253A>G , LRG_47:g.100253A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4674A>G
ENST00000695970.1:c.3472A>G ENSP00000512297.1:p.Thr1158Ala
ENST00000695971.1:c.3625A>G ENSP00000512298.1:p.Thr1209Ala
ENST00000695972.1:c.*723A>G ENSP00000512299.1:n.*723A>G
ENST00000695973.1:c.*2010A>G ENSP00000512300.1:n.*2010A>G
ENST00000695974.1:c.3469A>G ENSP00000512301.1:p.Thr1157Ala
ENST00000695975.1:c.*1773A>G ENSP00000512302.1:n.*1773A>G
ENST00000695976.1:c.3457A>G ENSP00000512303.1:p.Thr1153Ala
ENST00000695981.1:c.3580+66A>G ENSP00000512306.1:n.3580+66A>G
ENST00000695984.1:c.1654A>G ENSP00000512309.1:p.Thr552Ala
ENST00000695986.1:c.*3297A>G ENSP00000512311.1:n.*3297A>G
ENST00000695990.1:n.680A>G
ENST00000696026.1:c.*1928A>G ENSP00000512335.1:n.*1928A>G
ENST00000696027.1:c.3640A>G ENSP00000512336.1:p.Thr1214Ala
ENST00000696028.1:c.3574A>G ENSP00000512337.1:p.Thr1192Ala
ENST00000696029.1:c.3640A>G ENSP00000512338.1:p.Thr1214Ala
ENST00000696031.1:c.*3164A>G ENSP00000512340.1:n.*3164A>G
ENST00000696032.1:c.3580+66A>G ENSP00000512341.1:n.3580+66A>G
ENST00000696033.1:c.1160-32534A>G ENSP00000512342.1:n.1160-32534A>G
ENST00000367429.9:c.3646A>G MANE Select ENSP00000356399.4:p.Thr1216Ala
ENST00000367429.8:c.3646A>G ENSP00000356399.4:p.Thr1216Ala
ENST00000466229.5:n.6744A>G
NM_000186.3:c.3646A>G , LRG_47t1:c.3646A>G NP_000177.2:p.Thr1216Ala
XR_001737134.2:n.3832A>G
NM_000186.4:c.3646A>G MANE Select NP_000177.2:p.Thr1216Ala