Canonical Allele Identifier: CA1217760063

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726127_196726131delinsATGCT , CM000663.2:g.196726127_196726131delinsATGCT	GRCh38
NC_000001.10:g.196695257_196695261delinsATGCT , CM000663.1:g.196695257_196695261delinsATGCT	GRCh37
NC_000001.9:g.194961880_194961884delinsATGCT	NCBI36
NG_007259.1:g.79117_79121delinsATGCT , LRG_47:g.79117_79121delinsATGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2140-343_2140-339delinsATGCT
ENST00000695969.1:c.1874-343_1874-339delinsATGCT	ENSP00000512296.1:n.1874-343_1874-339delinsATGCT
ENST00000695970.1:c.1874-343_1874-339delinsATGCT	ENSP00000512297.1:n.1874-343_1874-339delinsATGCT
ENST00000695971.1:c.1853-343_1853-339delinsATGCT	ENSP00000512298.1:n.1853-343_1853-339delinsATGCT
ENST00000695972.1:c.1874-343_1874-339delinsATGCT	ENSP00000512299.1:n.1874-343_1874-339delinsATGCT
ENST00000695973.1:c.*238-343_*238-339delinsATGCT	ENSP00000512300.1:n.*238-343_*238-339delinsATGCT
ENST00000695974.1:c.1697-343_1697-339delinsATGCT	ENSP00000512301.1:n.1697-343_1697-339delinsATGCT
ENST00000695975.1:c.1874-329_1874-325delinsATGCT	ENSP00000512302.1:n.1874-329_1874-325delinsATGCT
ENST00000695976.1:c.1685-343_1685-339delinsATGCT	ENSP00000512303.1:n.1685-343_1685-339delinsATGCT
ENST00000695981.1:c.1874-343_1874-339delinsATGCT	ENSP00000512306.1:n.1874-343_1874-339delinsATGCT
ENST00000695983.1:c.1874-343_1874-339delinsATGCT	ENSP00000512308.1:n.1874-343_1874-339delinsATGCT
ENST00000695984.1:c.245-2219_245-2215delinsATGCT	ENSP00000512309.1:n.245-2219_245-2215delinsATGCT
ENST00000695986.1:c.*1525-343_*1525-339delinsATGCT	ENSP00000512311.1:n.*1525-343_*1525-339delinsATGCT
ENST00000696025.1:n.1958-343_1958-339delinsATGCT
ENST00000696026.1:c.*156-343_*156-339delinsATGCT	ENSP00000512335.1:n.*156-343_*156-339delinsATGCT
ENST00000696027.1:c.1874-343_1874-339delinsATGCT	ENSP00000512336.1:n.1874-343_1874-339delinsATGCT
ENST00000696028.1:c.1874-343_1874-339delinsATGCT	ENSP00000512337.1:n.1874-343_1874-339delinsATGCT
ENST00000696029.1:c.1874-343_1874-339delinsATGCT	ENSP00000512338.1:n.1874-343_1874-339delinsATGCT
ENST00000696031.1:c.*1392-343_*1392-339delinsATGCT	ENSP00000512340.1:n.*1392-343_*1392-339delinsATGCT
ENST00000696032.1:c.1874-343_1874-339delinsATGCT	ENSP00000512341.1:n.1874-343_1874-339delinsATGCT
ENST00000696033.1:c.1159+36513_1159+36517delinsATGCT	ENSP00000512342.1:n.1159+36513_1159+36517delinsATGCT
ENST00000367429.9:c.1874-343_1874-339delinsATGCT MANE Select	ENSP00000356399.4:n.1874-343_1874-339delinsATGCT
ENST00000367429.8:c.1874-343_1874-339delinsATGCT	ENSP00000356399.4:n.1874-343_1874-339delinsATGCT
ENST00000466229.5:n.3890-343_3890-339delinsATGCT
NM_000186.3:c.1874-343_1874-339delinsATGCT , LRG_47t1:c.1874-343_1874-339delinsATGCT	NP_000177.2:n.1874-343_1874-339delinsATGCT
XR_001737134.2:n.2060-343_2060-339delinsATGCT
NM_000186.4:c.1874-343_1874-339delinsATGCT MANE Select	NP_000177.2:n.1874-343_1874-339delinsATGCT