Canonical Allele Identifier: CA1217764423

Gene: CFH

Linked Data

• dbSNP Id: rs1669326446

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196733409_196733410del , CM000663.2:g.196733409_196733410del	GRCh38
NC_000001.10:g.196702539_196702540del , CM000663.1:g.196702539_196702540del	GRCh37
NC_000001.9:g.194969162_194969163del	NCBI36
NG_007259.1:g.86399_86400del , LRG_47:g.86399_86400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2680-3415_2680-3414del
ENST00000695969.1:c.2414-3415_2414-3414del	ENSP00000512296.1:n.2414-3415_2414-3414del
ENST00000695970.1:c.2414-3415_2414-3414del	ENSP00000512297.1:n.2414-3415_2414-3414del
ENST00000695971.1:c.2393-3415_2393-3414del	ENSP00000512298.1:n.2393-3415_2393-3414del
ENST00000695972.1:c.2232+6473_2232+6474del	ENSP00000512299.1:n.2232+6473_2232+6474del
ENST00000695973.1:c.*778-3415_*778-3414del	ENSP00000512300.1:n.*778-3415_*778-3414del
ENST00000695974.1:c.2237-3415_2237-3414del	ENSP00000512301.1:n.2237-3415_2237-3414del
ENST00000695975.1:c.*541-3415_*541-3414del	ENSP00000512302.1:n.*541-3415_*541-3414del
ENST00000695976.1:c.2225-3415_2225-3414del	ENSP00000512303.1:n.2225-3415_2225-3414del
ENST00000695981.1:c.2414-3415_2414-3414del	ENSP00000512306.1:n.2414-3415_2414-3414del
ENST00000695983.1:c.2414-3415_2414-3414del	ENSP00000512308.1:n.2414-3415_2414-3414del
ENST00000695984.1:c.422-3415_422-3414del	ENSP00000512309.1:n.422-3415_422-3414del
ENST00000695986.1:c.*2065-3415_*2065-3414del	ENSP00000512311.1:n.*2065-3415_*2065-3414del
ENST00000696025.1:n.2498-3415_2498-3414del
ENST00000696026.1:c.*696-3415_*696-3414del	ENSP00000512335.1:n.*696-3415_*696-3414del
ENST00000696027.1:c.2408-3415_2408-3414del	ENSP00000512336.1:n.2408-3415_2408-3414del
ENST00000696028.1:c.2414-3415_2414-3414del	ENSP00000512337.1:n.2414-3415_2414-3414del
ENST00000696029.1:c.2414-3415_2414-3414del	ENSP00000512338.1:n.2414-3415_2414-3414del
ENST00000696031.1:c.*1932-3415_*1932-3414del	ENSP00000512340.1:n.*1932-3415_*1932-3414del
ENST00000696032.1:c.2414-3415_2414-3414del	ENSP00000512341.1:n.2414-3415_2414-3414del
ENST00000696033.1:c.1159+43795_1159+43796del	ENSP00000512342.1:n.1159+43795_1159+43796del
ENST00000367429.9:c.2414-3415_2414-3414del MANE Select	ENSP00000356399.4:n.2414-3415_2414-3414del
ENST00000367429.8:c.2414-3415_2414-3414del	ENSP00000356399.4:n.2414-3415_2414-3414del
ENST00000466229.5:n.4430-3415_4430-3414del
NM_000186.3:c.2414-3415_2414-3414del , LRG_47t1:c.2414-3415_2414-3414del	NP_000177.2:n.2414-3415_2414-3414del
XR_001737134.2:n.2600-3415_2600-3414del
NM_000186.4:c.2414-3415_2414-3414del MANE Select	NP_000177.2:n.2414-3415_2414-3414del