Canonical Allele Identifier: CA1217770650

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746932_196746933delinsCA , CM000663.2:g.196746932_196746933delinsCA	GRCh38
NC_000001.10:g.196716062_196716063delinsCA , CM000663.1:g.196716062_196716063delinsCA	GRCh37
NC_000001.9:g.194982685_194982686delinsCA	NCBI36
NG_007259.1:g.99922_99923delinsCA , LRG_47:g.99922_99923delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4522-179_4522-178delinsCA
ENST00000695970.1:c.3320-179_3320-178delinsCA	ENSP00000512297.1:n.3320-179_3320-178delinsCA
ENST00000695971.1:c.3473-179_3473-178delinsCA	ENSP00000512298.1:n.3473-179_3473-178delinsCA
ENST00000695972.1:c.*571-179_*571-178delinsCA	ENSP00000512299.1:n.*571-179_*571-178delinsCA
ENST00000695973.1:c.*1858-179_*1858-178delinsCA	ENSP00000512300.1:n.*1858-179_*1858-178delinsCA
ENST00000695974.1:c.3317-179_3317-178delinsCA	ENSP00000512301.1:n.3317-179_3317-178delinsCA
ENST00000695975.1:c.*1621-179_*1621-178delinsCA	ENSP00000512302.1:n.*1621-179_*1621-178delinsCA
ENST00000695976.1:c.3305-179_3305-178delinsCA	ENSP00000512303.1:n.3305-179_3305-178delinsCA
ENST00000695981.1:c.3494-179_3494-178delinsCA	ENSP00000512306.1:n.3494-179_3494-178delinsCA
ENST00000695984.1:c.1502-179_1502-178delinsCA	ENSP00000512309.1:n.1502-179_1502-178delinsCA
ENST00000695986.1:c.*3145-179_*3145-178delinsCA	ENSP00000512311.1:n.*3145-179_*3145-178delinsCA
ENST00000695990.1:n.528-179_528-178delinsCA
ENST00000696026.1:c.*1776-179_*1776-178delinsCA	ENSP00000512335.1:n.*1776-179_*1776-178delinsCA
ENST00000696027.1:c.3488-179_3488-178delinsCA	ENSP00000512336.1:n.3488-179_3488-178delinsCA
ENST00000696028.1:c.3422-179_3422-178delinsCA	ENSP00000512337.1:n.3422-179_3422-178delinsCA
ENST00000696029.1:c.3488-179_3488-178delinsCA	ENSP00000512338.1:n.3488-179_3488-178delinsCA
ENST00000696031.1:c.*3012-179_*3012-178delinsCA	ENSP00000512340.1:n.*3012-179_*3012-178delinsCA
ENST00000696032.1:c.3494-179_3494-178delinsCA	ENSP00000512341.1:n.3494-179_3494-178delinsCA
ENST00000696033.1:c.1160-32865_1160-32864delinsCA	ENSP00000512342.1:n.1160-32865_1160-32864delinsCA
ENST00000367429.9:c.3494-179_3494-178delinsCA MANE Select	ENSP00000356399.4:n.3494-179_3494-178delinsCA
ENST00000367429.8:c.3494-179_3494-178delinsCA	ENSP00000356399.4:n.3494-179_3494-178delinsCA
ENST00000466229.5:n.6592-179_6592-178delinsCA
NM_000186.3:c.3494-179_3494-178delinsCA , LRG_47t1:c.3494-179_3494-178delinsCA	NP_000177.2:n.3494-179_3494-178delinsCA
XR_001737134.2:n.3680-179_3680-178delinsCA
NM_000186.4:c.3494-179_3494-178delinsCA MANE Select	NP_000177.2:n.3494-179_3494-178delinsCA