Canonical Allele Identifier: CA1217737808

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196677844_196677845delinsCA , CM000663.2:g.196677844_196677845delinsCA	GRCh38
NC_000001.10:g.196646974_196646975delinsCA , CM000663.1:g.196646974_196646975delinsCA	GRCh37
NC_000001.9:g.194913597_194913598delinsCA	NCBI36
NG_007259.1:g.30834_30835delinsCA , LRG_47:g.30834_30835delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.428-1779_428-1778delinsCA	ENSP00000352658.2:n.428-1779_428-1778delinsCA
ENST00000470918.2:n.885+177_885+178delinsCA
ENST00000695968.1:c.436+177_436+178delinsCA	ENSP00000512295.1:n.436+177_436+178delinsCA
ENST00000695969.1:c.619+177_619+178delinsCA	ENSP00000512296.1:n.619+177_619+178delinsCA
ENST00000695970.1:c.619+177_619+178delinsCA	ENSP00000512297.1:n.619+177_619+178delinsCA
ENST00000695971.1:c.619+177_619+178delinsCA	ENSP00000512298.1:n.619+177_619+178delinsCA
ENST00000695972.1:c.619+177_619+178delinsCA	ENSP00000512299.1:n.619+177_619+178delinsCA
ENST00000695973.1:c.619+177_619+178delinsCA	ENSP00000512300.1:n.619+177_619+178delinsCA
ENST00000695974.1:c.619+177_619+178delinsCA	ENSP00000512301.1:n.619+177_619+178delinsCA
ENST00000695975.1:c.619+177_619+178delinsCA	ENSP00000512302.1:n.619+177_619+178delinsCA
ENST00000695976.1:c.430+177_430+178delinsCA	ENSP00000512303.1:n.430+177_430+178delinsCA
ENST00000695978.1:c.619+177_619+178delinsCA	ENSP00000512304.1:n.619+177_619+178delinsCA
ENST00000695979.1:c.619+177_619+178delinsCA	ENSP00000512305.1:n.619+177_619+178delinsCA
ENST00000695980.1:n.739+177_739+178delinsCA
ENST00000695981.1:c.619+177_619+178delinsCA	ENSP00000512306.1:n.619+177_619+178delinsCA
ENST00000695983.1:c.619+177_619+178delinsCA	ENSP00000512308.1:n.619+177_619+178delinsCA
ENST00000695984.1:c.244+4681_244+4682delinsCA	ENSP00000512309.1:n.244+4681_244+4682delinsCA
ENST00000695986.1:c.*270+177_*270+178delinsCA	ENSP00000512311.1:n.*270+177_*270+178delinsCA
ENST00000695987.1:c.430+177_430+178delinsCA	ENSP00000512312.1:n.430+177_430+178delinsCA
ENST00000696018.1:n.703+177_703+178delinsCA
ENST00000696019.1:n.703+177_703+178delinsCA
ENST00000696020.1:n.703+177_703+178delinsCA
ENST00000696021.1:n.703+177_703+178delinsCA
ENST00000696022.1:n.703+177_703+178delinsCA
ENST00000696023.1:c.619+177_619+178delinsCA	ENSP00000512334.1:n.619+177_619+178delinsCA
ENST00000696024.1:n.703+177_703+178delinsCA
ENST00000696025.1:n.703+177_703+178delinsCA
ENST00000696026.1:c.619+177_619+178delinsCA	ENSP00000512335.1:n.619+177_619+178delinsCA
ENST00000696027.1:c.619+177_619+178delinsCA	ENSP00000512336.1:n.619+177_619+178delinsCA
ENST00000696028.1:c.619+177_619+178delinsCA	ENSP00000512337.1:n.619+177_619+178delinsCA
ENST00000696029.1:c.619+177_619+178delinsCA	ENSP00000512338.1:n.619+177_619+178delinsCA
ENST00000696030.1:c.619+177_619+178delinsCA	ENSP00000512339.1:n.619+177_619+178delinsCA
ENST00000696031.1:c.619+177_619+178delinsCA	ENSP00000512340.1:n.619+177_619+178delinsCA
ENST00000696032.1:c.619+177_619+178delinsCA	ENSP00000512341.1:n.619+177_619+178delinsCA
ENST00000696033.1:c.619+177_619+178delinsCA	ENSP00000512342.1:n.619+177_619+178delinsCA
ENST00000367429.9:c.619+177_619+178delinsCA MANE Select	ENSP00000356399.4:n.619+177_619+178delinsCA
ENST00000359637.2:c.428-1779_428-1778delinsCA	ENSP00000352658.2:n.428-1779_428-1778delinsCA
ENST00000367429.8:c.619+177_619+178delinsCA	ENSP00000356399.4:n.619+177_619+178delinsCA
ENST00000466229.5:n.857_858delinsCA
ENST00000630130.2:c.619+177_619+178delinsCA	ENSP00000487250.1:n.619+177_619+178delinsCA
NM_000186.3:c.619+177_619+178delinsCA , LRG_47t1:c.619+177_619+178delinsCA	NP_000177.2:n.619+177_619+178delinsCA
NM_001014975.2:c.619+177_619+178delinsCA	NP_001014975.1:n.619+177_619+178delinsCA
XM_017001108.2:c.619+177_619+178delinsCA	XP_016856597.1:n.619+177_619+178delinsCA
XR_001737134.2:n.704+177_704+178delinsCA
NM_000186.4:c.619+177_619+178delinsCA MANE Select	NP_000177.2:n.619+177_619+178delinsCA
NM_001014975.3:c.619+177_619+178delinsCA	NP_001014975.1:n.619+177_619+178delinsCA