Canonical Allele Identifier: CA2573131336

Gene: CFH

Linked Data

• ClinVar Variation Id: 1452931
• ClinVar RCV Id: RCV002000038
• dbSNP Id: rs2149088724

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690146del , CM000663.2:g.196690146del	GRCh38
NC_000001.10:g.196659276del , CM000663.1:g.196659276del	GRCh37
NC_000001.9:g.194925899del	NCBI36
NG_007259.1:g.43136del , LRG_47:g.43136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1051del	ENSP00000352658.2:p.Ala351ProfsTer?
ENST00000470918.2:n.1509del
ENST00000695968.1:c.1060del	ENSP00000512295.1:p.Ala354ProfsTer?
ENST00000695969.1:c.1243del	ENSP00000512296.1:p.Ala415ProfsTer?
ENST00000695970.1:c.1243del	ENSP00000512297.1:p.Ala415ProfsTer?
ENST00000695971.1:c.1222del	ENSP00000512298.1:p.Ala408ProfsTer?
ENST00000695972.1:c.1243del	ENSP00000512299.1:p.Ala415ProfsTer?
ENST00000695973.1:c.1243del	ENSP00000512300.1:p.Ala415ProfsTer?
ENST00000695974.1:c.1243del	ENSP00000512301.1:p.Ala415ProfsTer?
ENST00000695975.1:c.1243del	ENSP00000512302.1:p.Ala415ProfsTer?
ENST00000695976.1:c.1054del	ENSP00000512303.1:p.Ala352ProfsTer?
ENST00000695977.1:n.84del
ENST00000695978.1:c.1243del	ENSP00000512304.1:p.Ala415ProfsTer?
ENST00000695979.1:c.1222del	ENSP00000512305.1:p.Ala408ProfsTer?
ENST00000695980.1:n.1363del
ENST00000695981.1:c.1243del	ENSP00000512306.1:p.Ala415ProfsTer?
ENST00000695983.1:c.1243del	ENSP00000512308.1:p.Ala415ProfsTer?
ENST00000695984.1:c.244+16983del	ENSP00000512309.1:n.244+16983del
ENST00000695986.1:c.*894del	ENSP00000512311.1:n.*894del
ENST00000695987.1:c.1054del	ENSP00000512312.1:p.Ala352ProfsTer?
ENST00000696018.1:n.1327del
ENST00000696019.1:n.1327del
ENST00000696020.1:n.1327del
ENST00000696021.1:n.1306del
ENST00000696022.1:n.1327del
ENST00000696023.1:c.1243del	ENSP00000512334.1:p.Ala415ProfsTer?
ENST00000696024.1:n.1327del
ENST00000696025.1:n.1327del
ENST00000696026.1:c.1243del	ENSP00000512335.1:p.Ala415ProfsTer?
ENST00000696027.1:c.1243del	ENSP00000512336.1:p.Ala415ProfsTer?
ENST00000696028.1:c.1243del	ENSP00000512337.1:p.Ala415ProfsTer?
ENST00000696029.1:c.1243del	ENSP00000512338.1:p.Ala415ProfsTer?
ENST00000696030.1:c.1168del	ENSP00000512339.1:p.Ala390ProfsTer?
ENST00000696031.1:c.*761del	ENSP00000512340.1:n.*761del
ENST00000696032.1:c.1243del	ENSP00000512341.1:p.Ala415ProfsTer?
ENST00000696033.1:c.1159+532del	ENSP00000512342.1:n.1159+532del
ENST00000367429.9:c.1243del MANE Select	ENSP00000356399.4:p.Ala415ProfsTer?
ENST00000359637.2:c.1051del	ENSP00000352658.2:p.Ala351ProfsTer?
ENST00000367429.8:c.1243del	ENSP00000356399.4:p.Ala415ProfsTer?
ENST00000466229.5:n.3259del
ENST00000630130.2:c.1243del	ENSP00000487250.1:p.Ala415ProfsTer?
NM_000186.3:c.1243del , LRG_47t1:c.1243del	NP_000177.2:p.Ala415ProfsTer?
NM_001014975.2:c.1243del	NP_001014975.1:p.Ala415ProfsTer?
XM_017001108.2:c.1243del	XP_016856597.1:p.Ala415ProfsTer?
XR_001737134.2:n.1328del
NM_000186.4:c.1243del MANE Select	NP_000177.2:p.Ala415ProfsTer?
NM_001014975.3:c.1243del	NP_001014975.1:p.Ala415ProfsTer?