Canonical Allele Identifier: CA343982345
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1280733073

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196713888A>C , CM000663.2:g.196713888A>C GRCh38
NC_000001.10:g.196683018A>C , CM000663.1:g.196683018A>C GRCh37
NC_000001.9:g.194949641A>C NCBI36
NG_007259.1:g.66878A>C , LRG_47:g.66878A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.1756A>C
ENST00000695969.1:c.1490A>C ENSP00000512296.1:p.Asp497Ala
ENST00000695970.1:c.1490A>C ENSP00000512297.1:p.Asp497Ala
ENST00000695971.1:c.1469A>C ENSP00000512298.1:p.Asp490Ala
ENST00000695972.1:c.1490A>C ENSP00000512299.1:p.Asp497Ala
ENST00000695973.1:c.1490A>C ENSP00000512300.1:p.Asp497Ala
ENST00000695974.1:c.1490A>C ENSP00000512301.1:p.Asp497Ala
ENST00000695975.1:c.1490A>C ENSP00000512302.1:p.Asp497Ala
ENST00000695976.1:c.1301A>C ENSP00000512303.1:p.Asp434Ala
ENST00000695981.1:c.1490A>C ENSP00000512306.1:p.Asp497Ala
ENST00000695983.1:c.1490A>C ENSP00000512308.1:p.Asp497Ala
ENST00000695984.1:c.245-14458A>C ENSP00000512309.1:n.245-14458A>C
ENST00000695986.1:c.*1141A>C ENSP00000512311.1:n.*1141A>C
ENST00000696024.1:n.1574A>C
ENST00000696025.1:n.1574A>C
ENST00000696026.1:c.1490A>C ENSP00000512335.1:p.Asp497Ala
ENST00000696027.1:c.1490A>C ENSP00000512336.1:p.Asp497Ala
ENST00000696028.1:c.1490A>C ENSP00000512337.1:p.Asp497Ala
ENST00000696029.1:c.1490A>C ENSP00000512338.1:p.Asp497Ala
ENST00000696031.1:c.*1008A>C ENSP00000512340.1:n.*1008A>C
ENST00000696032.1:c.1490A>C ENSP00000512341.1:p.Asp497Ala
ENST00000696033.1:c.1159+24274A>C ENSP00000512342.1:n.1159+24274A>C
ENST00000367429.9:c.1490A>C MANE Select ENSP00000356399.4:p.Asp497Ala
ENST00000367429.8:c.1490A>C ENSP00000356399.4:p.Asp497Ala
ENST00000466229.5:n.3506A>C
NM_000186.3:c.1490A>C , LRG_47t1:c.1490A>C NP_000177.2:p.Asp497Ala
XR_001737134.2:n.1575A>C
NM_000186.4:c.1490A>C MANE Select NP_000177.2:p.Asp497Ala