Canonical Allele Identifier: CA1217769018
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1652890859

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196743563_196743564insCA , CM000663.2:g.196743563_196743564insCA GRCh38
NC_000001.10:g.196712693_196712694insCA , CM000663.1:g.196712693_196712694insCA GRCh37
NC_000001.9:g.194979316_194979317insCA NCBI36
NG_007259.1:g.96553_96554insCA , LRG_47:g.96553_96554insCA

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4273_4274insCA
ENST00000695970.1:c.3071_3072insCA ENSP00000512297.1:p.Glu1024AspfsTer9
ENST00000695971.1:c.3224_3225insCA ENSP00000512298.1:p.Glu1075AspfsTer9
ENST00000695972.1:c.*322_*323insCA ENSP00000512299.1:n.*322_*323insCA
ENST00000695973.1:c.*1609_*1610insCA ENSP00000512300.1:n.*1609_*1610insCA
ENST00000695974.1:c.3068_3069insCA ENSP00000512301.1:p.Glu1023AspfsTer9
ENST00000695975.1:c.*1372_*1373insCA ENSP00000512302.1:n.*1372_*1373insCA
ENST00000695976.1:c.3056_3057insCA ENSP00000512303.1:p.Glu1019AspfsTer9
ENST00000695981.1:c.3245_3246insCA ENSP00000512306.1:p.Glu1082AspfsTer9
ENST00000695984.1:c.1253_1254insCA ENSP00000512309.1:p.Glu418AspfsTer9
ENST00000695986.1:c.*2896_*2897insCA ENSP00000512311.1:n.*2896_*2897insCA
ENST00000696026.1:c.*1527_*1528insCA ENSP00000512335.1:n.*1527_*1528insCA
ENST00000696027.1:c.3239_3240insCA ENSP00000512336.1:p.Glu1080AspfsTer9
ENST00000696028.1:c.3173_3174insCA ENSP00000512337.1:p.Glu1058AspfsTer9
ENST00000696029.1:c.3239_3240insCA ENSP00000512338.1:p.Glu1080AspfsTer9
ENST00000696031.1:c.*2763_*2764insCA ENSP00000512340.1:n.*2763_*2764insCA
ENST00000696032.1:c.3245_3246insCA ENSP00000512341.1:p.Glu1082AspfsTer9
ENST00000696033.1:c.1160-36234_1160-36233insCA ENSP00000512342.1:n.1160-36234_1160-36233...
ENST00000367429.9:c.3245_3246insCA MANE Select ENSP00000356399.4:p.Glu1082AspfsTer9
ENST00000367429.8:c.3245_3246insCA ENSP00000356399.4:p.Glu1082AspfsTer9
ENST00000466229.5:n.6343_6344insCA
NM_000186.3:c.3245_3246insCA , LRG_47t1:c.3245_3246insCA NP_000177.2:p.Glu1082AspfsTer9
XR_001737134.2:n.3431_3432insCA
NM_000186.4:c.3245_3246insCA MANE Select NP_000177.2:p.Glu1082AspfsTer9