Canonical Allele Identifier: CA343989274
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747287G>A , CM000663.2:g.196747287G>A GRCh38
NC_000001.10:g.196716417G>A , CM000663.1:g.196716417G>A GRCh37
NC_000001.9:g.194983040G>A NCBI36
NG_007259.1:g.100277G>A , LRG_47:g.100277G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4698G>A
ENST00000695970.1:c.3496G>A ENSP00000512297.1:p.Glu1166Lys
ENST00000695971.1:c.3649G>A ENSP00000512298.1:p.Glu1217Lys
ENST00000695972.1:c.*747G>A ENSP00000512299.1:n.*747G>A
ENST00000695973.1:c.*2034G>A ENSP00000512300.1:n.*2034G>A
ENST00000695974.1:c.3493G>A ENSP00000512301.1:p.Glu1165Lys
ENST00000695975.1:c.*1797G>A ENSP00000512302.1:n.*1797G>A
ENST00000695976.1:c.3481G>A ENSP00000512303.1:p.Glu1161Lys
ENST00000695981.1:c.3580+90G>A ENSP00000512306.1:n.3580+90G>A
ENST00000695984.1:c.1678G>A ENSP00000512309.1:p.Glu560Lys
ENST00000695986.1:c.*3321G>A ENSP00000512311.1:n.*3321G>A
ENST00000695990.1:n.704G>A
ENST00000696026.1:c.*1952G>A ENSP00000512335.1:n.*1952G>A
ENST00000696027.1:c.3664G>A ENSP00000512336.1:p.Glu1222Lys
ENST00000696028.1:c.3598G>A ENSP00000512337.1:p.Glu1200Lys
ENST00000696029.1:c.3664G>A ENSP00000512338.1:p.Glu1222Lys
ENST00000696031.1:c.*3188G>A ENSP00000512340.1:n.*3188G>A
ENST00000696032.1:c.3580+90G>A ENSP00000512341.1:n.3580+90G>A
ENST00000696033.1:c.1160-32510G>A ENSP00000512342.1:n.1160-32510G>A
ENST00000367429.9:c.3670G>A MANE Select ENSP00000356399.4:p.Glu1224Lys
ENST00000367429.8:c.3670G>A ENSP00000356399.4:p.Glu1224Lys
ENST00000466229.5:n.6768G>A
NM_000186.3:c.3670G>A , LRG_47t1:c.3670G>A NP_000177.2:p.Glu1224Lys
XR_001737134.2:n.3856G>A
NM_000186.4:c.3670G>A MANE Select NP_000177.2:p.Glu1224Lys