Canonical Allele Identifier: CA1217759966

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726011_196726012delinsAT , CM000663.2:g.196726011_196726012delinsAT	GRCh38
NC_000001.10:g.196695141_196695142delinsAT , CM000663.1:g.196695141_196695142delinsAT	GRCh37
NC_000001.9:g.194961764_194961765delinsAT	NCBI36
NG_007259.1:g.79001_79002delinsAT , LRG_47:g.79001_79002delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2140-459_2140-458delinsAT
ENST00000695969.1:c.1874-459_1874-458delinsAT	ENSP00000512296.1:n.1874-459_1874-458delinsAT
ENST00000695970.1:c.1874-459_1874-458delinsAT	ENSP00000512297.1:n.1874-459_1874-458delinsAT
ENST00000695971.1:c.1853-459_1853-458delinsAT	ENSP00000512298.1:n.1853-459_1853-458delinsAT
ENST00000695972.1:c.1874-459_1874-458delinsAT	ENSP00000512299.1:n.1874-459_1874-458delinsAT
ENST00000695973.1:c.*238-459_*238-458delinsAT	ENSP00000512300.1:n.*238-459_*238-458delinsAT
ENST00000695974.1:c.1697-459_1697-458delinsAT	ENSP00000512301.1:n.1697-459_1697-458delinsAT
ENST00000695975.1:c.1874-445_1874-444delinsAT	ENSP00000512302.1:n.1874-445_1874-444delinsAT
ENST00000695976.1:c.1685-459_1685-458delinsAT	ENSP00000512303.1:n.1685-459_1685-458delinsAT
ENST00000695981.1:c.1874-459_1874-458delinsAT	ENSP00000512306.1:n.1874-459_1874-458delinsAT
ENST00000695983.1:c.1874-459_1874-458delinsAT	ENSP00000512308.1:n.1874-459_1874-458delinsAT
ENST00000695984.1:c.245-2335_245-2334delinsAT	ENSP00000512309.1:n.245-2335_245-2334delinsAT
ENST00000695986.1:c.*1525-459_*1525-458delinsAT	ENSP00000512311.1:n.*1525-459_*1525-458delinsAT
ENST00000696025.1:n.1958-459_1958-458delinsAT
ENST00000696026.1:c.*156-459_*156-458delinsAT	ENSP00000512335.1:n.*156-459_*156-458delinsAT
ENST00000696027.1:c.1874-459_1874-458delinsAT	ENSP00000512336.1:n.1874-459_1874-458delinsAT
ENST00000696028.1:c.1874-459_1874-458delinsAT	ENSP00000512337.1:n.1874-459_1874-458delinsAT
ENST00000696029.1:c.1874-459_1874-458delinsAT	ENSP00000512338.1:n.1874-459_1874-458delinsAT
ENST00000696031.1:c.*1392-459_*1392-458delinsAT	ENSP00000512340.1:n.*1392-459_*1392-458delinsAT
ENST00000696032.1:c.1874-459_1874-458delinsAT	ENSP00000512341.1:n.1874-459_1874-458delinsAT
ENST00000696033.1:c.1159+36397_1159+36398delinsAT	ENSP00000512342.1:n.1159+36397_1159+36398delinsAT
ENST00000367429.9:c.1874-459_1874-458delinsAT MANE Select	ENSP00000356399.4:n.1874-459_1874-458delinsAT
ENST00000367429.8:c.1874-459_1874-458delinsAT	ENSP00000356399.4:n.1874-459_1874-458delinsAT
ENST00000466229.5:n.3890-459_3890-458delinsAT
NM_000186.3:c.1874-459_1874-458delinsAT , LRG_47t1:c.1874-459_1874-458delinsAT	NP_000177.2:n.1874-459_1874-458delinsAT
XR_001737134.2:n.2060-459_2060-458delinsAT
NM_000186.4:c.1874-459_1874-458delinsAT MANE Select	NP_000177.2:n.1874-459_1874-458delinsAT