Canonical Allele Identifier: CA1217743301

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690109_196690112delinsTGGA , CM000663.2:g.196690109_196690112delinsTGGA	GRCh38
NC_000001.10:g.196659239_196659242delinsTGGA , CM000663.1:g.196659239_196659242delinsTGGA	GRCh37
NC_000001.9:g.194925862_194925865delinsTGGA	NCBI36
NG_007259.1:g.43099_43102delinsTGGA , LRG_47:g.43099_43102delinsTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000359637.3:c.1014_1017delinsTGGA	ENSP00000352658.2:p.His338=
ENST00000470918.2:n.1472_1475delinsTGGA
ENST00000695968.1:c.1023_1026delinsTGGA	ENSP00000512295.1:p.His341=
ENST00000695969.1:c.1206_1209delinsTGGA	ENSP00000512296.1:p.His402=
ENST00000695970.1:c.1206_1209delinsTGGA	ENSP00000512297.1:p.His402=
ENST00000695971.1:c.1185_1188delinsTGGA	ENSP00000512298.1:p.His395=
ENST00000695972.1:c.1206_1209delinsTGGA	ENSP00000512299.1:p.His402=
ENST00000695973.1:c.1206_1209delinsTGGA	ENSP00000512300.1:p.His402=
ENST00000695974.1:c.1206_1209delinsTGGA	ENSP00000512301.1:p.His402=
ENST00000695975.1:c.1206_1209delinsTGGA	ENSP00000512302.1:p.His402=
ENST00000695976.1:c.1017_1020delinsTGGA	ENSP00000512303.1:p.His339=
ENST00000695977.1:n.47_50delinsTGGA
ENST00000695978.1:c.1206_1209delinsTGGA	ENSP00000512304.1:p.His402=
ENST00000695979.1:c.1185_1188delinsTGGA	ENSP00000512305.1:p.His395=
ENST00000695980.1:n.1326_1329delinsTGGA
ENST00000695981.1:c.1206_1209delinsTGGA	ENSP00000512306.1:p.His402=
ENST00000695983.1:c.1206_1209delinsTGGA	ENSP00000512308.1:p.His402=
ENST00000695984.1:c.244+16946_244+16949delinsTGGA	ENSP00000512309.1:n.244+16946_244+16949de...
ENST00000695986.1:c.*857_*860delinsTGGA	ENSP00000512311.1:n.*857_*860delinsTGGA
ENST00000695987.1:c.1017_1020delinsTGGA	ENSP00000512312.1:p.His339=
ENST00000696018.1:n.1290_1293delinsTGGA
ENST00000696019.1:n.1290_1293delinsTGGA
ENST00000696020.1:n.1290_1293delinsTGGA
ENST00000696021.1:n.1269_1272delinsTGGA
ENST00000696022.1:n.1290_1293delinsTGGA
ENST00000696023.1:c.1206_1209delinsTGGA	ENSP00000512334.1:p.His402=
ENST00000696024.1:n.1290_1293delinsTGGA
ENST00000696025.1:n.1290_1293delinsTGGA
ENST00000696026.1:c.1206_1209delinsTGGA	ENSP00000512335.1:p.His402=
ENST00000696027.1:c.1206_1209delinsTGGA	ENSP00000512336.1:p.His402=
ENST00000696028.1:c.1206_1209delinsTGGA	ENSP00000512337.1:p.His402=
ENST00000696029.1:c.1206_1209delinsTGGA	ENSP00000512338.1:p.His402=
ENST00000696030.1:c.1131_1134delinsTGGA	ENSP00000512339.1:p.His377=
ENST00000696031.1:c.*724_*727delinsTGGA	ENSP00000512340.1:n.*724_*727delinsTGGA
ENST00000696032.1:c.1206_1209delinsTGGA	ENSP00000512341.1:p.His402=
ENST00000696033.1:c.1159+495_1159+498delinsTGGA	ENSP00000512342.1:n.1159+495_1159+498deli...
ENST00000367429.9:c.1206_1209delinsTGGA MANE Select	ENSP00000356399.4:p.His402=
ENST00000359637.2:c.1014_1017delinsTGGA	ENSP00000352658.2:p.His338=
ENST00000367429.8:c.1206_1209delinsTGGA	ENSP00000356399.4:p.His402=
ENST00000466229.5:n.3222_3225delinsTGGA
ENST00000630130.2:c.1206_1209delinsTGGA	ENSP00000487250.1:p.His402=
NM_000186.3:c.1206_1209delinsTGGA , LRG_47t1:c.1206_1209delinsTGGA	NP_000177.2:p.His402=
NM_001014975.2:c.1206_1209delinsTGGA	NP_001014975.1:p.His402=
XM_017001108.2:c.1206_1209delinsTGGA	XP_016856597.1:p.His402=
XR_001737134.2:n.1291_1294delinsTGGA
NM_000186.4:c.1206_1209delinsTGGA MANE Select	NP_000177.2:p.His402=
NM_001014975.3:c.1206_1209delinsTGGA	NP_001014975.1:p.His402=