Canonical Allele Identifier: CA2649642410

Gene: CFH

Linked Data

• gnomAD v4: 1-196677722-TTAAAACATCGTTCATTCTAAGGAATATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196677723_196677750del , CM000663.2:g.196677723_196677750del	GRCh38
NC_000001.10:g.196646853_196646880del , CM000663.1:g.196646853_196646880del	GRCh37
NC_000001.9:g.194913476_194913503del	NCBI36
NG_007259.1:g.30713_30740del , LRG_47:g.30713_30740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.427+1658_427+1685del	ENSP00000352658.2:n.427+1658_427+1685del
ENST00000470918.2:n.885+56_885+83del
ENST00000695968.1:c.436+56_436+83del	ENSP00000512295.1:n.436+56_436+83del
ENST00000695969.1:c.619+56_619+83del	ENSP00000512296.1:n.619+56_619+83del
ENST00000695970.1:c.619+56_619+83del	ENSP00000512297.1:n.619+56_619+83del
ENST00000695971.1:c.619+56_619+83del	ENSP00000512298.1:n.619+56_619+83del
ENST00000695972.1:c.619+56_619+83del	ENSP00000512299.1:n.619+56_619+83del
ENST00000695973.1:c.619+56_619+83del	ENSP00000512300.1:n.619+56_619+83del
ENST00000695974.1:c.619+56_619+83del	ENSP00000512301.1:n.619+56_619+83del
ENST00000695975.1:c.619+56_619+83del	ENSP00000512302.1:n.619+56_619+83del
ENST00000695976.1:c.430+56_430+83del	ENSP00000512303.1:n.430+56_430+83del
ENST00000695978.1:c.619+56_619+83del	ENSP00000512304.1:n.619+56_619+83del
ENST00000695979.1:c.619+56_619+83del	ENSP00000512305.1:n.619+56_619+83del
ENST00000695980.1:n.739+56_739+83del
ENST00000695981.1:c.619+56_619+83del	ENSP00000512306.1:n.619+56_619+83del
ENST00000695983.1:c.619+56_619+83del	ENSP00000512308.1:n.619+56_619+83del
ENST00000695984.1:c.244+4560_244+4587del	ENSP00000512309.1:n.244+4560_244+4587del
ENST00000695986.1:c.*270+56_*270+83del	ENSP00000512311.1:n.*270+56_*270+83del
ENST00000695987.1:c.430+56_430+83del	ENSP00000512312.1:n.430+56_430+83del
ENST00000696018.1:n.703+56_703+83del
ENST00000696019.1:n.703+56_703+83del
ENST00000696020.1:n.703+56_703+83del
ENST00000696021.1:n.703+56_703+83del
ENST00000696022.1:n.703+56_703+83del
ENST00000696023.1:c.619+56_619+83del	ENSP00000512334.1:n.619+56_619+83del
ENST00000696024.1:n.703+56_703+83del
ENST00000696025.1:n.703+56_703+83del
ENST00000696026.1:c.619+56_619+83del	ENSP00000512335.1:n.619+56_619+83del
ENST00000696027.1:c.619+56_619+83del	ENSP00000512336.1:n.619+56_619+83del
ENST00000696028.1:c.619+56_619+83del	ENSP00000512337.1:n.619+56_619+83del
ENST00000696029.1:c.619+56_619+83del	ENSP00000512338.1:n.619+56_619+83del
ENST00000696030.1:c.619+56_619+83del	ENSP00000512339.1:n.619+56_619+83del
ENST00000696031.1:c.619+56_619+83del	ENSP00000512340.1:n.619+56_619+83del
ENST00000696032.1:c.619+56_619+83del	ENSP00000512341.1:n.619+56_619+83del
ENST00000696033.1:c.619+56_619+83del	ENSP00000512342.1:n.619+56_619+83del
ENST00000367429.9:c.619+56_619+83del MANE Select	ENSP00000356399.4:n.619+56_619+83del
ENST00000359637.2:c.427+1658_427+1685del	ENSP00000352658.2:n.427+1658_427+1685del
ENST00000367429.8:c.619+56_619+83del	ENSP00000356399.4:n.619+56_619+83del
ENST00000466229.5:n.736_763del
ENST00000630130.2:c.619+56_619+83del	ENSP00000487250.1:n.619+56_619+83del
NM_000186.3:c.619+56_619+83del , LRG_47t1:c.619+56_619+83del	NP_000177.2:n.619+56_619+83del
NM_001014975.2:c.619+56_619+83del	NP_001014975.1:n.619+56_619+83del
XM_017001108.2:c.619+56_619+83del	XP_016856597.1:n.619+56_619+83del
XR_001737134.2:n.704+56_704+83del
NM_000186.4:c.619+56_619+83del MANE Select	NP_000177.2:n.619+56_619+83del
NM_001014975.3:c.619+56_619+83del	NP_001014975.1:n.619+56_619+83del