Canonical Allele Identifier: CA1217758295

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196724198_196724207delinsCTCCTTTGGG , CM000663.2:g.196724198_196724207delinsCTCCTTTGGG	GRCh38
NC_000001.10:g.196693328_196693337delinsCTCCTTTGGG , CM000663.1:g.196693328_196693337delinsCTCCTTTGGG	GRCh37
NC_000001.9:g.194959951_194959960delinsCTCCTTTGGG	NCBI36
NG_007259.1:g.77188_77197delinsCTCCTTTGGG , LRG_47:g.77188_77197delinsCTCCTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1963-923_1963-914delinsCTCCTTTGGG
ENST00000695969.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512296.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000695970.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512297.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000695971.1:c.1676-923_1676-914delinsCTCCTTTGGG	ENSP00000512298.1:n.1676-923_1676-914delinsCTCCTTTGGG
ENST00000695972.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512299.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000695973.1:c.*61-923_*61-914delinsCTCCTTTGGG	ENSP00000512300.1:n.*61-923_*61-914delinsCTCCTTTGGG
ENST00000695974.1:c.1697-2272_1697-2263delinsCTCCTTTGGG	ENSP00000512301.1:n.1697-2272_1697-2263delinsCTCCTTTGGG
ENST00000695975.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512302.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000695976.1:c.1508-923_1508-914delinsCTCCTTTGGG	ENSP00000512303.1:n.1508-923_1508-914delinsCTCCTTTGGG
ENST00000695981.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512306.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000695983.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512308.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000695984.1:c.245-4148_245-4139delinsCTCCTTTGGG	ENSP00000512309.1:n.245-4148_245-4139delinsCTCCTTTGGG
ENST00000695986.1:c.*1348-923_*1348-914delinsCTCCTTTGGG	ENSP00000512311.1:n.*1348-923_*1348-914delinsCTCCTTTGGG
ENST00000696025.1:n.1781-923_1781-914delinsCTCCTTTGGG
ENST00000696026.1:c.1701-929_1701-920delinsCTCCTTTGGG	ENSP00000512335.1:n.1701-929_1701-920delinsCTCCTTTGGG
ENST00000696027.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512336.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000696028.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512337.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000696029.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512338.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000696031.1:c.*1215-923_*1215-914delinsCTCCTTTGGG	ENSP00000512340.1:n.*1215-923_*1215-914delinsCTCCTTTGGG
ENST00000696032.1:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000512341.1:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000696033.1:c.1159+34584_1159+34593delinsCTCCTTTGGG	ENSP00000512342.1:n.1159+34584_1159+34593delinsCTCCTTTGGG
ENST00000367429.9:c.1697-923_1697-914delinsCTCCTTTGGG MANE Select	ENSP00000356399.4:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000367429.8:c.1697-923_1697-914delinsCTCCTTTGGG	ENSP00000356399.4:n.1697-923_1697-914delinsCTCCTTTGGG
ENST00000466229.5:n.3713-923_3713-914delinsCTCCTTTGGG
NM_000186.3:c.1697-923_1697-914delinsCTCCTTTGGG , LRG_47t1:c.1697-923_1697-914delinsCTCCTTTGGG	NP_000177.2:n.1697-923_1697-914delinsCTCCTTTGGG
XR_001737134.2:n.1883-923_1883-914delinsCTCCTTTGGG
NM_000186.4:c.1697-923_1697-914delinsCTCCTTTGGG MANE Select	NP_000177.2:n.1697-923_1697-914delinsCTCCTTTGGG