Canonical Allele Identifier: CA1217760046

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726108_196726109delinsCA , CM000663.2:g.196726108_196726109delinsCA	GRCh38
NC_000001.10:g.196695238_196695239delinsCA , CM000663.1:g.196695238_196695239delinsCA	GRCh37
NC_000001.9:g.194961861_194961862delinsCA	NCBI36
NG_007259.1:g.79098_79099delinsCA , LRG_47:g.79098_79099delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2140-362_2140-361delinsCA
ENST00000695969.1:c.1874-362_1874-361delinsCA	ENSP00000512296.1:n.1874-362_1874-361delinsCA
ENST00000695970.1:c.1874-362_1874-361delinsCA	ENSP00000512297.1:n.1874-362_1874-361delinsCA
ENST00000695971.1:c.1853-362_1853-361delinsCA	ENSP00000512298.1:n.1853-362_1853-361delinsCA
ENST00000695972.1:c.1874-362_1874-361delinsCA	ENSP00000512299.1:n.1874-362_1874-361delinsCA
ENST00000695973.1:c.*238-362_*238-361delinsCA	ENSP00000512300.1:n.*238-362_*238-361delinsCA
ENST00000695974.1:c.1697-362_1697-361delinsCA	ENSP00000512301.1:n.1697-362_1697-361delinsCA
ENST00000695975.1:c.1874-348_1874-347delinsCA	ENSP00000512302.1:n.1874-348_1874-347delinsCA
ENST00000695976.1:c.1685-362_1685-361delinsCA	ENSP00000512303.1:n.1685-362_1685-361delinsCA
ENST00000695981.1:c.1874-362_1874-361delinsCA	ENSP00000512306.1:n.1874-362_1874-361delinsCA
ENST00000695983.1:c.1874-362_1874-361delinsCA	ENSP00000512308.1:n.1874-362_1874-361delinsCA
ENST00000695984.1:c.245-2238_245-2237delinsCA	ENSP00000512309.1:n.245-2238_245-2237delinsCA
ENST00000695986.1:c.*1525-362_*1525-361delinsCA	ENSP00000512311.1:n.*1525-362_*1525-361delinsCA
ENST00000696025.1:n.1958-362_1958-361delinsCA
ENST00000696026.1:c.*156-362_*156-361delinsCA	ENSP00000512335.1:n.*156-362_*156-361delinsCA
ENST00000696027.1:c.1874-362_1874-361delinsCA	ENSP00000512336.1:n.1874-362_1874-361delinsCA
ENST00000696028.1:c.1874-362_1874-361delinsCA	ENSP00000512337.1:n.1874-362_1874-361delinsCA
ENST00000696029.1:c.1874-362_1874-361delinsCA	ENSP00000512338.1:n.1874-362_1874-361delinsCA
ENST00000696031.1:c.*1392-362_*1392-361delinsCA	ENSP00000512340.1:n.*1392-362_*1392-361delinsCA
ENST00000696032.1:c.1874-362_1874-361delinsCA	ENSP00000512341.1:n.1874-362_1874-361delinsCA
ENST00000696033.1:c.1159+36494_1159+36495delinsCA	ENSP00000512342.1:n.1159+36494_1159+36495delinsCA
ENST00000367429.9:c.1874-362_1874-361delinsCA MANE Select	ENSP00000356399.4:n.1874-362_1874-361delinsCA
ENST00000367429.8:c.1874-362_1874-361delinsCA	ENSP00000356399.4:n.1874-362_1874-361delinsCA
ENST00000466229.5:n.3890-362_3890-361delinsCA
NM_000186.3:c.1874-362_1874-361delinsCA , LRG_47t1:c.1874-362_1874-361delinsCA	NP_000177.2:n.1874-362_1874-361delinsCA
XR_001737134.2:n.2060-362_2060-361delinsCA
NM_000186.4:c.1874-362_1874-361delinsCA MANE Select	NP_000177.2:n.1874-362_1874-361delinsCA