Canonical Allele Identifier: CA891862774

Gene: CFH

Linked Data

• ClinVar Variation Id: 591448
• ClinVar RCV Id: RCV000722627
• dbSNP Id: rs1558162151

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690215_196690217del , CM000663.2:g.196690215_196690217del	GRCh38
NC_000001.10:g.196659345_196659347del , CM000663.1:g.196659345_196659347del	GRCh37
NC_000001.9:g.194925968_194925970del	NCBI36
NG_007259.1:g.43205_43207del , LRG_47:g.43205_43207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1120_1122del	ENSP00000352658.2:p.Pro374del
ENST00000470918.2:n.1578_1580del
ENST00000695968.1:c.1129_1131del	ENSP00000512295.1:p.Pro377del
ENST00000695969.1:c.1312_1314del	ENSP00000512296.1:p.Pro438del
ENST00000695970.1:c.1312_1314del	ENSP00000512297.1:p.Pro438del
ENST00000695971.1:c.1291_1293del	ENSP00000512298.1:p.Pro431del
ENST00000695972.1:c.1312_1314del	ENSP00000512299.1:p.Pro438del
ENST00000695973.1:c.1312_1314del	ENSP00000512300.1:p.Pro438del
ENST00000695974.1:c.1312_1314del	ENSP00000512301.1:p.Pro438del
ENST00000695975.1:c.1312_1314del	ENSP00000512302.1:p.Pro438del
ENST00000695976.1:c.1123_1125del	ENSP00000512303.1:p.Pro375del
ENST00000695977.1:n.153_155del
ENST00000695978.1:c.1312_1314del	ENSP00000512304.1:p.Pro438del
ENST00000695979.1:c.1291_1293del	ENSP00000512305.1:p.Pro431del
ENST00000695980.1:n.1432_1434del
ENST00000695981.1:c.1312_1314del	ENSP00000512306.1:p.Pro438del
ENST00000695983.1:c.1312_1314del	ENSP00000512308.1:p.Pro438del
ENST00000695984.1:c.244+17052_244+17054del	ENSP00000512309.1:n.244+17052_244+17054del
ENST00000695986.1:c.*963_*965del	ENSP00000512311.1:n.*963_*965del
ENST00000695987.1:c.1123_1125del	ENSP00000512312.1:p.Pro375del
ENST00000696018.1:n.1396_1398del
ENST00000696019.1:n.1396_1398del
ENST00000696020.1:n.1396_1398del
ENST00000696021.1:n.1375_1377del
ENST00000696022.1:n.1396_1398del
ENST00000696023.1:c.1312_1314del	ENSP00000512334.1:p.Pro438del
ENST00000696024.1:n.1396_1398del
ENST00000696025.1:n.1396_1398del
ENST00000696026.1:c.1312_1314del	ENSP00000512335.1:p.Pro438del
ENST00000696027.1:c.1312_1314del	ENSP00000512336.1:p.Pro438del
ENST00000696028.1:c.1312_1314del	ENSP00000512337.1:p.Pro438del
ENST00000696029.1:c.1312_1314del	ENSP00000512338.1:p.Pro438del
ENST00000696030.1:c.1237_1239del	ENSP00000512339.1:p.Pro413del
ENST00000696031.1:c.*830_*832del	ENSP00000512340.1:n.*830_*832del
ENST00000696032.1:c.1312_1314del	ENSP00000512341.1:p.Pro438del
ENST00000696033.1:c.1159+601_1159+603del	ENSP00000512342.1:n.1159+601_1159+603del
ENST00000367429.9:c.1312_1314del MANE Select	ENSP00000356399.4:p.Pro438del
ENST00000359637.2:c.1120_1122del	ENSP00000352658.2:p.Pro374del
ENST00000367429.8:c.1312_1314del	ENSP00000356399.4:p.Pro438del
ENST00000466229.5:n.3328_3330del
ENST00000630130.2:c.1312_1314del	ENSP00000487250.1:p.Pro438del
NM_000186.3:c.1312_1314del , LRG_47t1:c.1312_1314del	NP_000177.2:p.Pro438del
NM_001014975.2:c.1312_1314del	NP_001014975.1:p.Pro438del
XM_017001108.2:c.1312_1314del	XP_016856597.1:p.Pro438del
XR_001737134.2:n.1397_1399del
NM_000186.4:c.1312_1314del MANE Select	NP_000177.2:p.Pro438del
NM_001014975.3:c.1312_1314del	NP_001014975.1:p.Pro438del