Canonical Allele Identifier: CA1143992132

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715444_196715445delinsCA , CM000663.2:g.196715444_196715445delinsCA	GRCh38
NC_000001.10:g.196684574_196684575delinsCA , CM000663.1:g.196684574_196684575delinsCA	GRCh37
NC_000001.9:g.194951197_194951198delinsCA	NCBI36
NG_007259.1:g.68434_68435delinsCA , LRG_47:g.68434_68435delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.1786-149_1786-148delinsCA
ENST00000695969.1:c.1520-149_1520-148delinsCA	ENSP00000512296.1:n.1520-149_1520-148deli...
ENST00000695970.1:c.1520-149_1520-148delinsCA	ENSP00000512297.1:n.1520-149_1520-148deli...
ENST00000695971.1:c.1499-149_1499-148delinsCA	ENSP00000512298.1:n.1499-149_1499-148deli...
ENST00000695972.1:c.1520-149_1520-148delinsCA	ENSP00000512299.1:n.1520-149_1520-148deli...
ENST00000695973.1:c.1520-149_1520-148delinsCA	ENSP00000512300.1:n.1520-149_1520-148deli...
ENST00000695974.1:c.1520-149_1520-148delinsCA	ENSP00000512301.1:n.1520-149_1520-148deli...
ENST00000695975.1:c.1520-149_1520-148delinsCA	ENSP00000512302.1:n.1520-149_1520-148deli...
ENST00000695976.1:c.1331-149_1331-148delinsCA	ENSP00000512303.1:n.1331-149_1331-148deli...
ENST00000695981.1:c.1520-149_1520-148delinsCA	ENSP00000512306.1:n.1520-149_1520-148deli...
ENST00000695983.1:c.1520-149_1520-148delinsCA	ENSP00000512308.1:n.1520-149_1520-148deli...
ENST00000695984.1:c.245-12902_245-12901delinsCA	ENSP00000512309.1:n.245-12902_245-12901de...
ENST00000695986.1:c.*1171-149_*1171-148delinsCA	ENSP00000512311.1:n.*1171-149_*1171-148de...
ENST00000696024.1:n.1604-149_1604-148delinsCA
ENST00000696025.1:n.1604-149_1604-148delinsCA
ENST00000696026.1:c.1520-149_1520-148delinsCA	ENSP00000512335.1:n.1520-149_1520-148deli...
ENST00000696027.1:c.1520-149_1520-148delinsCA	ENSP00000512336.1:n.1520-149_1520-148deli...
ENST00000696028.1:c.1520-149_1520-148delinsCA	ENSP00000512337.1:n.1520-149_1520-148deli...
ENST00000696029.1:c.1520-149_1520-148delinsCA	ENSP00000512338.1:n.1520-149_1520-148deli...
ENST00000696031.1:c.*1038-149_*1038-148delinsCA	ENSP00000512340.1:n.*1038-149_*1038-148de...
ENST00000696032.1:c.1520-149_1520-148delinsCA	ENSP00000512341.1:n.1520-149_1520-148deli...
ENST00000696033.1:c.1159+25830_1159+25831delinsCA	ENSP00000512342.1:n.1159+25830_1159+25831...
ENST00000367429.9:c.1520-149_1520-148delinsCA MANE Select	ENSP00000356399.4:n.1520-149_1520-148deli...
ENST00000367429.8:c.1520-149_1520-148delinsCA	ENSP00000356399.4:n.1520-149_1520-148deli...
ENST00000466229.5:n.3536-149_3536-148delinsCA
NM_000186.3:c.1520-149_1520-148delinsCA , LRG_47t1:c.1520-149_1520-148delinsCA	NP_000177.2:n.1520-149_1520-148delinsCA
XR_001737134.2:n.1605-149_1605-148delinsCA
NM_000186.4:c.1520-149_1520-148delinsCA MANE Select	NP_000177.2:n.1520-149_1520-148delinsCA