Canonical Allele Identifier: CA1217770701

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747035_196747047delinsTCTACTTGAAAAC , CM000663.2:g.196747035_196747047delinsTCTACTTGAAAAC	GRCh38
NC_000001.10:g.196716165_196716177delinsTCTACTTGAAAAC , CM000663.1:g.196716165_196716177delinsTCTACTTGAAAAC	GRCh37
NC_000001.9:g.194982788_194982800delinsTCTACTTGAAAAC	NCBI36
NG_007259.1:g.100025_100037delinsTCTACTTGAAAAC , LRG_47:g.100025_100037delinsTCTACTTGAAAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-76_4522-64delinsTCTACTTGAAAAC
ENST00000695970.1:c.3320-76_3320-64delinsTCTACTTGAAAAC	ENSP00000512297.1:n.3320-76_3320-64delins...
ENST00000695971.1:c.3473-76_3473-64delinsTCTACTTGAAAAC	ENSP00000512298.1:n.3473-76_3473-64delins...
ENST00000695972.1:c.*571-76_*571-64delinsTCTACTTGAAAAC	ENSP00000512299.1:n.*571-76_*571-64delins...
ENST00000695973.1:c.*1858-76_*1858-64delinsTCTACTTGAAAAC	ENSP00000512300.1:n.*1858-76_*1858-64deli...
ENST00000695974.1:c.3317-76_3317-64delinsTCTACTTGAAAAC	ENSP00000512301.1:n.3317-76_3317-64delins...
ENST00000695975.1:c.*1621-76_*1621-64delinsTCTACTTGAAAAC	ENSP00000512302.1:n.*1621-76_*1621-64deli...
ENST00000695976.1:c.3305-76_3305-64delinsTCTACTTGAAAAC	ENSP00000512303.1:n.3305-76_3305-64delins...
ENST00000695981.1:c.3494-76_3494-64delinsTCTACTTGAAAAC	ENSP00000512306.1:n.3494-76_3494-64delins...
ENST00000695984.1:c.1502-76_1502-64delinsTCTACTTGAAAAC	ENSP00000512309.1:n.1502-76_1502-64delins...
ENST00000695986.1:c.*3145-76_*3145-64delinsTCTACTTGAAAAC	ENSP00000512311.1:n.*3145-76_*3145-64deli...
ENST00000695990.1:n.528-76_528-64delinsTCTACTTGAAAAC
ENST00000696026.1:c.*1776-76_*1776-64delinsTCTACTTGAAAAC	ENSP00000512335.1:n.*1776-76_*1776-64deli...
ENST00000696027.1:c.3488-76_3488-64delinsTCTACTTGAAAAC	ENSP00000512336.1:n.3488-76_3488-64delins...
ENST00000696028.1:c.3422-76_3422-64delinsTCTACTTGAAAAC	ENSP00000512337.1:n.3422-76_3422-64delins...
ENST00000696029.1:c.3488-76_3488-64delinsTCTACTTGAAAAC	ENSP00000512338.1:n.3488-76_3488-64delins...
ENST00000696031.1:c.*3012-76_*3012-64delinsTCTACTTGAAAAC	ENSP00000512340.1:n.*3012-76_*3012-64deli...
ENST00000696032.1:c.3494-76_3494-64delinsTCTACTTGAAAAC	ENSP00000512341.1:n.3494-76_3494-64delins...
ENST00000696033.1:c.1160-32762_1160-32750delinsTCTACTTGAAAAC	ENSP00000512342.1:n.1160-32762_1160-32750...
ENST00000367429.9:c.3494-76_3494-64delinsTCTACTTGAAAAC MANE Select	ENSP00000356399.4:n.3494-76_3494-64delins...
ENST00000367429.8:c.3494-76_3494-64delinsTCTACTTGAAAAC	ENSP00000356399.4:n.3494-76_3494-64delins...
ENST00000466229.5:n.6592-76_6592-64delinsTCTACTTGAAAAC
NM_000186.3:c.3494-76_3494-64delinsTCTACTTGAAAAC , LRG_47t1:c.3494-76_3494-64delinsTCTACTTGAAAAC	NP_000177.2:n.3494-76_3494-64delinsTCTACT...
XR_001737134.2:n.3680-76_3680-64delinsTCTACTTGAAAAC
NM_000186.4:c.3494-76_3494-64delinsTCTACTTGAAAAC MANE Select	NP_000177.2:n.3494-76_3494-64delinsTCTACT...