Canonical Allele Identifier: CA2586964470

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743528del , CM000663.2:g.196743528del	GRCh38
NC_000001.10:g.196712658del , CM000663.1:g.196712658del	GRCh37
NC_000001.9:g.194979281del	NCBI36
NG_007259.1:g.96518del , LRG_47:g.96518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4238del
ENST00000695970.1:c.3036del	ENSP00000512297.1:p.Glu1013ArgfsTer19
ENST00000695971.1:c.3189del	ENSP00000512298.1:p.Glu1064ArgfsTer19
ENST00000695972.1:c.*287del	ENSP00000512299.1:n.*287del
ENST00000695973.1:c.*1574del	ENSP00000512300.1:n.*1574del
ENST00000695974.1:c.3033del	ENSP00000512301.1:p.Glu1012ArgfsTer19
ENST00000695975.1:c.*1337del	ENSP00000512302.1:n.*1337del
ENST00000695976.1:c.3021del	ENSP00000512303.1:p.Glu1008ArgfsTer19
ENST00000695981.1:c.3210del	ENSP00000512306.1:p.Glu1071ArgfsTer19
ENST00000695984.1:c.1218del	ENSP00000512309.1:p.Glu407ArgfsTer19
ENST00000695986.1:c.*2861del	ENSP00000512311.1:n.*2861del
ENST00000696026.1:c.*1492del	ENSP00000512335.1:n.*1492del
ENST00000696027.1:c.3204del	ENSP00000512336.1:p.Glu1069ArgfsTer19
ENST00000696028.1:c.3138del	ENSP00000512337.1:p.Glu1047ArgfsTer19
ENST00000696029.1:c.3204del	ENSP00000512338.1:p.Glu1069ArgfsTer19
ENST00000696031.1:c.*2728del	ENSP00000512340.1:n.*2728del
ENST00000696032.1:c.3210del	ENSP00000512341.1:p.Glu1071ArgfsTer19
ENST00000696033.1:c.1160-36269del	ENSP00000512342.1:n.1160-36269del
ENST00000367429.9:c.3210del MANE Select	ENSP00000356399.4:p.Glu1071ArgfsTer19
ENST00000367429.8:c.3210del	ENSP00000356399.4:p.Glu1071ArgfsTer19
ENST00000466229.5:n.6308del
NM_000186.3:c.3210del , LRG_47t1:c.3210del	NP_000177.2:p.Glu1071ArgfsTer19
XR_001737134.2:n.3396del
NM_000186.4:c.3210del MANE Select	NP_000177.2:p.Glu1071ArgfsTer19