Canonical Allele Identifier: CA1217764944

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196734643_196734644delinsGA , CM000663.2:g.196734643_196734644delinsGA	GRCh38
NC_000001.10:g.196703773_196703774delinsGA , CM000663.1:g.196703773_196703774delinsGA	GRCh37
NC_000001.9:g.194970396_194970397delinsGA	NCBI36
NG_007259.1:g.87633_87634delinsGA , LRG_47:g.87633_87634delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2680-2181_2680-2180delinsGA
ENST00000695969.1:c.2414-2181_2414-2180delinsGA	ENSP00000512296.1:n.2414-2181_2414-2180delinsGA
ENST00000695970.1:c.2414-2181_2414-2180delinsGA	ENSP00000512297.1:n.2414-2181_2414-2180delinsGA
ENST00000695971.1:c.2393-2181_2393-2180delinsGA	ENSP00000512298.1:n.2393-2181_2393-2180delinsGA
ENST00000695972.1:c.2233-6021_2233-6020delinsGA	ENSP00000512299.1:n.2233-6021_2233-6020delinsGA
ENST00000695973.1:c.*778-2181_*778-2180delinsGA	ENSP00000512300.1:n.*778-2181_*778-2180delinsGA
ENST00000695974.1:c.2237-2181_2237-2180delinsGA	ENSP00000512301.1:n.2237-2181_2237-2180delinsGA
ENST00000695975.1:c.*541-2181_*541-2180delinsGA	ENSP00000512302.1:n.*541-2181_*541-2180delinsGA
ENST00000695976.1:c.2225-2181_2225-2180delinsGA	ENSP00000512303.1:n.2225-2181_2225-2180delinsGA
ENST00000695981.1:c.2414-2181_2414-2180delinsGA	ENSP00000512306.1:n.2414-2181_2414-2180delinsGA
ENST00000695983.1:c.2414-2181_2414-2180delinsGA	ENSP00000512308.1:n.2414-2181_2414-2180delinsGA
ENST00000695984.1:c.422-2181_422-2180delinsGA	ENSP00000512309.1:n.422-2181_422-2180delinsGA
ENST00000695986.1:c.*2065-2181_*2065-2180delinsGA	ENSP00000512311.1:n.*2065-2181_*2065-2180delinsGA
ENST00000696025.1:n.2498-2181_2498-2180delinsGA
ENST00000696026.1:c.*696-2181_*696-2180delinsGA	ENSP00000512335.1:n.*696-2181_*696-2180delinsGA
ENST00000696027.1:c.2408-2181_2408-2180delinsGA	ENSP00000512336.1:n.2408-2181_2408-2180delinsGA
ENST00000696028.1:c.2414-2181_2414-2180delinsGA	ENSP00000512337.1:n.2414-2181_2414-2180delinsGA
ENST00000696029.1:c.2414-2181_2414-2180delinsGA	ENSP00000512338.1:n.2414-2181_2414-2180delinsGA
ENST00000696031.1:c.*1932-2181_*1932-2180delinsGA	ENSP00000512340.1:n.*1932-2181_*1932-2180delinsGA
ENST00000696032.1:c.2414-2181_2414-2180delinsGA	ENSP00000512341.1:n.2414-2181_2414-2180delinsGA
ENST00000696033.1:c.1159+45029_1159+45030delinsGA	ENSP00000512342.1:n.1159+45029_1159+45030delinsGA
ENST00000367429.9:c.2414-2181_2414-2180delinsGA MANE Select	ENSP00000356399.4:n.2414-2181_2414-2180delinsGA
ENST00000367429.8:c.2414-2181_2414-2180delinsGA	ENSP00000356399.4:n.2414-2181_2414-2180delinsGA
ENST00000466229.5:n.4430-2181_4430-2180delinsGA
NM_000186.3:c.2414-2181_2414-2180delinsGA , LRG_47t1:c.2414-2181_2414-2180delinsGA	NP_000177.2:n.2414-2181_2414-2180delinsGA
XR_001737134.2:n.2600-2181_2600-2180delinsGA
NM_000186.4:c.2414-2181_2414-2180delinsGA MANE Select	NP_000177.2:n.2414-2181_2414-2180delinsGA