Canonical Allele Identifier: CA343989185
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747275G>C , CM000663.2:g.196747275G>C GRCh38
NC_000001.10:g.196716405G>C , CM000663.1:g.196716405G>C GRCh37
NC_000001.9:g.194983028G>C NCBI36
NG_007259.1:g.100265G>C , LRG_47:g.100265G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4686G>C
ENST00000695970.1:c.3484G>C ENSP00000512297.1:p.Asp1162His
ENST00000695971.1:c.3637G>C ENSP00000512298.1:p.Asp1213His
ENST00000695972.1:c.*735G>C ENSP00000512299.1:n.*735G>C
ENST00000695973.1:c.*2022G>C ENSP00000512300.1:n.*2022G>C
ENST00000695974.1:c.3481G>C ENSP00000512301.1:p.Asp1161His
ENST00000695975.1:c.*1785G>C ENSP00000512302.1:n.*1785G>C
ENST00000695976.1:c.3469G>C ENSP00000512303.1:p.Asp1157His
ENST00000695981.1:c.3580+78G>C ENSP00000512306.1:n.3580+78G>C
ENST00000695984.1:c.1666G>C ENSP00000512309.1:p.Asp556His
ENST00000695986.1:c.*3309G>C ENSP00000512311.1:n.*3309G>C
ENST00000695990.1:n.692G>C
ENST00000696026.1:c.*1940G>C ENSP00000512335.1:n.*1940G>C
ENST00000696027.1:c.3652G>C ENSP00000512336.1:p.Asp1218His
ENST00000696028.1:c.3586G>C ENSP00000512337.1:p.Asp1196His
ENST00000696029.1:c.3652G>C ENSP00000512338.1:p.Asp1218His
ENST00000696031.1:c.*3176G>C ENSP00000512340.1:n.*3176G>C
ENST00000696032.1:c.3580+78G>C ENSP00000512341.1:n.3580+78G>C
ENST00000696033.1:c.1160-32522G>C ENSP00000512342.1:n.1160-32522G>C
ENST00000367429.9:c.3658G>C MANE Select ENSP00000356399.4:p.Asp1220His
ENST00000367429.8:c.3658G>C ENSP00000356399.4:p.Asp1220His
ENST00000466229.5:n.6756G>C
NM_000186.3:c.3658G>C , LRG_47t1:c.3658G>C NP_000177.2:p.Asp1220His
XR_001737134.2:n.3844G>C
NM_000186.4:c.3658G>C MANE Select NP_000177.2:p.Asp1220His