Canonical Allele Identifier: CA1217770666

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746976_196746977delinsTC , CM000663.2:g.196746976_196746977delinsTC	GRCh38
NC_000001.10:g.196716106_196716107delinsTC , CM000663.1:g.196716106_196716107delinsTC	GRCh37
NC_000001.9:g.194982729_194982730delinsTC	NCBI36
NG_007259.1:g.99966_99967delinsTC , LRG_47:g.99966_99967delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-135_4522-134delinsTC
ENST00000695970.1:c.3320-135_3320-134delinsTC	ENSP00000512297.1:n.3320-135_3320-134delinsTC
ENST00000695971.1:c.3473-135_3473-134delinsTC	ENSP00000512298.1:n.3473-135_3473-134delinsTC
ENST00000695972.1:c.*571-135_*571-134delinsTC	ENSP00000512299.1:n.*571-135_*571-134delinsTC
ENST00000695973.1:c.*1858-135_*1858-134delinsTC	ENSP00000512300.1:n.*1858-135_*1858-134delinsTC
ENST00000695974.1:c.3317-135_3317-134delinsTC	ENSP00000512301.1:n.3317-135_3317-134delinsTC
ENST00000695975.1:c.*1621-135_*1621-134delinsTC	ENSP00000512302.1:n.*1621-135_*1621-134delinsTC
ENST00000695976.1:c.3305-135_3305-134delinsTC	ENSP00000512303.1:n.3305-135_3305-134delinsTC
ENST00000695981.1:c.3494-135_3494-134delinsTC	ENSP00000512306.1:n.3494-135_3494-134delinsTC
ENST00000695984.1:c.1502-135_1502-134delinsTC	ENSP00000512309.1:n.1502-135_1502-134delinsTC
ENST00000695986.1:c.*3145-135_*3145-134delinsTC	ENSP00000512311.1:n.*3145-135_*3145-134delinsTC
ENST00000695990.1:n.528-135_528-134delinsTC
ENST00000696026.1:c.*1776-135_*1776-134delinsTC	ENSP00000512335.1:n.*1776-135_*1776-134delinsTC
ENST00000696027.1:c.3488-135_3488-134delinsTC	ENSP00000512336.1:n.3488-135_3488-134delinsTC
ENST00000696028.1:c.3422-135_3422-134delinsTC	ENSP00000512337.1:n.3422-135_3422-134delinsTC
ENST00000696029.1:c.3488-135_3488-134delinsTC	ENSP00000512338.1:n.3488-135_3488-134delinsTC
ENST00000696031.1:c.*3012-135_*3012-134delinsTC	ENSP00000512340.1:n.*3012-135_*3012-134delinsTC
ENST00000696032.1:c.3494-135_3494-134delinsTC	ENSP00000512341.1:n.3494-135_3494-134delinsTC
ENST00000696033.1:c.1160-32821_1160-32820delinsTC	ENSP00000512342.1:n.1160-32821_1160-32820delinsTC
ENST00000367429.9:c.3494-135_3494-134delinsTC MANE Select	ENSP00000356399.4:n.3494-135_3494-134delinsTC
ENST00000367429.8:c.3494-135_3494-134delinsTC	ENSP00000356399.4:n.3494-135_3494-134delinsTC
ENST00000466229.5:n.6592-135_6592-134delinsTC
NM_000186.3:c.3494-135_3494-134delinsTC , LRG_47t1:c.3494-135_3494-134delinsTC	NP_000177.2:n.3494-135_3494-134delinsTC
XR_001737134.2:n.3680-135_3680-134delinsTC
NM_000186.4:c.3494-135_3494-134delinsTC MANE Select	NP_000177.2:n.3494-135_3494-134delinsTC