Canonical Allele Identifier: CA1217770725
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747087_196747088delinsAT , CM000663.2:g.196747087_196747088delinsAT GRCh38
NC_000001.10:g.196716217_196716218delinsAT , CM000663.1:g.196716217_196716218delinsAT GRCh37
NC_000001.9:g.194982840_194982841delinsAT NCBI36
NG_007259.1:g.100077_100078delinsAT , LRG_47:g.100077_100078delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4522-24_4522-23delinsAT
ENST00000695970.1:c.3320-24_3320-23delinsAT ENSP00000512297.1:n.3320-24_3320-23delins...
ENST00000695971.1:c.3473-24_3473-23delinsAT ENSP00000512298.1:n.3473-24_3473-23delins...
ENST00000695972.1:c.*571-24_*571-23delinsAT ENSP00000512299.1:n.*571-24_*571-23delins...
ENST00000695973.1:c.*1858-24_*1858-23delinsAT ENSP00000512300.1:n.*1858-24_*1858-23deli...
ENST00000695974.1:c.3317-24_3317-23delinsAT ENSP00000512301.1:n.3317-24_3317-23delins...
ENST00000695975.1:c.*1621-24_*1621-23delinsAT ENSP00000512302.1:n.*1621-24_*1621-23deli...
ENST00000695976.1:c.3305-24_3305-23delinsAT ENSP00000512303.1:n.3305-24_3305-23delins...
ENST00000695981.1:c.3494-24_3494-23delinsAT ENSP00000512306.1:n.3494-24_3494-23delins...
ENST00000695984.1:c.1502-24_1502-23delinsAT ENSP00000512309.1:n.1502-24_1502-23delins...
ENST00000695986.1:c.*3145-24_*3145-23delinsAT ENSP00000512311.1:n.*3145-24_*3145-23deli...
ENST00000695990.1:n.528-24_528-23delinsAT
ENST00000696026.1:c.*1776-24_*1776-23delinsAT ENSP00000512335.1:n.*1776-24_*1776-23deli...
ENST00000696027.1:c.3488-24_3488-23delinsAT ENSP00000512336.1:n.3488-24_3488-23delins...
ENST00000696028.1:c.3422-24_3422-23delinsAT ENSP00000512337.1:n.3422-24_3422-23delins...
ENST00000696029.1:c.3488-24_3488-23delinsAT ENSP00000512338.1:n.3488-24_3488-23delins...
ENST00000696031.1:c.*3012-24_*3012-23delinsAT ENSP00000512340.1:n.*3012-24_*3012-23deli...
ENST00000696032.1:c.3494-24_3494-23delinsAT ENSP00000512341.1:n.3494-24_3494-23delins...
ENST00000696033.1:c.1160-32710_1160-32709delinsAT ENSP00000512342.1:n.1160-32710_1160-32709...
ENST00000367429.9:c.3494-24_3494-23delinsAT MANE Select ENSP00000356399.4:n.3494-24_3494-23delins...
ENST00000367429.8:c.3494-24_3494-23delinsAT ENSP00000356399.4:n.3494-24_3494-23delins...
ENST00000466229.5:n.6592-24_6592-23delinsAT
NM_000186.3:c.3494-24_3494-23delinsAT , LRG_47t1:c.3494-24_3494-23delinsAT NP_000177.2:n.3494-24_3494-23delinsAT
XR_001737134.2:n.3680-24_3680-23delinsAT
NM_000186.4:c.3494-24_3494-23delinsAT MANE Select NP_000177.2:n.3494-24_3494-23delinsAT