Canonical Allele Identifier: CA913189747

Gene: CFH

Linked Data

• ClinVar Variation Id: 599109
• ClinVar RCV Id: RCV000735706
• dbSNP Id: rs1558162157

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690221_196690230del , CM000663.2:g.196690221_196690230del	GRCh38
NC_000001.10:g.196659351_196659360del , CM000663.1:g.196659351_196659360del	GRCh37
NC_000001.9:g.194925974_194925983del	NCBI36
NG_007259.1:g.43211_43220del , LRG_47:g.43211_43220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1126_1135del	ENSP00000352658.2:p.Pro376SerfsTer19
ENST00000470918.2:n.1584_1593del
ENST00000695968.1:c.1135_1144del	ENSP00000512295.1:p.Pro379SerfsTer19
ENST00000695969.1:c.1318_1327del	ENSP00000512296.1:p.Pro440SerfsTer11
ENST00000695970.1:c.1318_1327del	ENSP00000512297.1:p.Pro440SerfsTer11
ENST00000695971.1:c.1297_1306del	ENSP00000512298.1:p.Pro433SerfsTer11
ENST00000695972.1:c.1318_1327del	ENSP00000512299.1:p.Pro440SerfsTer11
ENST00000695973.1:c.1318_1327del	ENSP00000512300.1:p.Pro440SerfsTer11
ENST00000695974.1:c.1318_1327del	ENSP00000512301.1:p.Pro440SerfsTer11
ENST00000695975.1:c.1318_1327del	ENSP00000512302.1:p.Pro440SerfsTer11
ENST00000695976.1:c.1129_1138del	ENSP00000512303.1:p.Pro377SerfsTer11
ENST00000695977.1:n.159_168del
ENST00000695978.1:c.1318_1327del	ENSP00000512304.1:p.Pro440SerfsTer8
ENST00000695979.1:c.1297_1306del	ENSP00000512305.1:p.Pro433SerfsTer19
ENST00000695980.1:n.1438_1447del
ENST00000695981.1:c.1318_1327del	ENSP00000512306.1:p.Pro440SerfsTer11
ENST00000695983.1:c.1318_1327del	ENSP00000512308.1:p.Pro440SerfsTer11
ENST00000695984.1:c.244+17058_244+17067del	ENSP00000512309.1:n.244+17058_244+17067del
ENST00000695986.1:c.*969_*978del	ENSP00000512311.1:n.*969_*978del
ENST00000695987.1:c.1129_1138del	ENSP00000512312.1:p.Pro377SerfsTer19
ENST00000696018.1:n.1402_1411del
ENST00000696019.1:n.1402_1411del
ENST00000696020.1:n.1402_1411del
ENST00000696021.1:n.1381_1390del
ENST00000696022.1:n.1402_1411del
ENST00000696023.1:c.1318_1327del	ENSP00000512334.1:p.Pro440SerfsTer9
ENST00000696024.1:n.1402_1411del
ENST00000696025.1:n.1402_1411del
ENST00000696026.1:c.1318_1327del	ENSP00000512335.1:p.Pro440SerfsTer11
ENST00000696027.1:c.1318_1327del	ENSP00000512336.1:p.Pro440SerfsTer11
ENST00000696028.1:c.1318_1327del	ENSP00000512337.1:p.Pro440SerfsTer11
ENST00000696029.1:c.1318_1327del	ENSP00000512338.1:p.Pro440SerfsTer11
ENST00000696030.1:c.1243_1252del	ENSP00000512339.1:p.Pro415SerfsTer19
ENST00000696031.1:c.*836_*845del	ENSP00000512340.1:n.*836_*845del
ENST00000696032.1:c.1318_1327del	ENSP00000512341.1:p.Pro440SerfsTer11
ENST00000696033.1:c.1159+607_1159+616del	ENSP00000512342.1:n.1159+607_1159+616del
ENST00000367429.9:c.1318_1327del MANE Select	ENSP00000356399.4:p.Pro440SerfsTer11
ENST00000359637.2:c.1126_1135del	ENSP00000352658.2:p.Pro376SerfsTer19
ENST00000367429.8:c.1318_1327del	ENSP00000356399.4:p.Pro440SerfsTer11
ENST00000466229.5:n.3334_3343del
ENST00000630130.2:c.1318_1327del	ENSP00000487250.1:p.Pro440SerfsTer19
NM_000186.3:c.1318_1327del , LRG_47t1:c.1318_1327del	NP_000177.2:p.Pro440SerfsTer11
NM_001014975.2:c.1318_1327del	NP_001014975.1:p.Pro440SerfsTer19
XM_017001108.2:c.1318_1327del	XP_016856597.1:p.Pro440SerfsTer6
XR_001737134.2:n.1403_1412del
NM_000186.4:c.1318_1327del MANE Select	NP_000177.2:p.Pro440SerfsTer11
NM_001014975.3:c.1318_1327del	NP_001014975.1:p.Pro440SerfsTer19