Canonical Allele Identifier: CA343989328
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747288A>T , CM000663.2:g.196747288A>T GRCh38
NC_000001.10:g.196716418A>T , CM000663.1:g.196716418A>T GRCh37
NC_000001.9:g.194983041A>T NCBI36
NG_007259.1:g.100278A>T , LRG_47:g.100278A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4699A>T
ENST00000695970.1:c.3497A>T ENSP00000512297.1:p.Glu1166Val
ENST00000695971.1:c.3650A>T ENSP00000512298.1:p.Glu1217Val
ENST00000695972.1:c.*748A>T ENSP00000512299.1:n.*748A>T
ENST00000695973.1:c.*2035A>T ENSP00000512300.1:n.*2035A>T
ENST00000695974.1:c.3494A>T ENSP00000512301.1:p.Glu1165Val
ENST00000695975.1:c.*1798A>T ENSP00000512302.1:n.*1798A>T
ENST00000695976.1:c.3482A>T ENSP00000512303.1:p.Glu1161Val
ENST00000695981.1:c.3580+91A>T ENSP00000512306.1:n.3580+91A>T
ENST00000695984.1:c.1679A>T ENSP00000512309.1:p.Glu560Val
ENST00000695986.1:c.*3322A>T ENSP00000512311.1:n.*3322A>T
ENST00000695990.1:n.705A>T
ENST00000696026.1:c.*1953A>T ENSP00000512335.1:n.*1953A>T
ENST00000696027.1:c.3665A>T ENSP00000512336.1:p.Glu1222Val
ENST00000696028.1:c.3599A>T ENSP00000512337.1:p.Glu1200Val
ENST00000696029.1:c.3665A>T ENSP00000512338.1:p.Glu1222Val
ENST00000696031.1:c.*3189A>T ENSP00000512340.1:n.*3189A>T
ENST00000696032.1:c.3580+91A>T ENSP00000512341.1:n.3580+91A>T
ENST00000696033.1:c.1160-32509A>T ENSP00000512342.1:n.1160-32509A>T
ENST00000367429.9:c.3671A>T MANE Select ENSP00000356399.4:p.Glu1224Val
ENST00000367429.8:c.3671A>T ENSP00000356399.4:p.Glu1224Val
ENST00000466229.5:n.6769A>T
NM_000186.3:c.3671A>T , LRG_47t1:c.3671A>T NP_000177.2:p.Glu1224Val
XR_001737134.2:n.3857A>T
NM_000186.4:c.3671A>T MANE Select NP_000177.2:p.Glu1224Val