Canonical Allele Identifier: CA1010862790

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196723249_196723251del , CM000663.2:g.196723249_196723251del	GRCh38
NC_000001.10:g.196692379_196692381del , CM000663.1:g.196692379_196692381del	GRCh37
NC_000001.9:g.194959002_194959004del	NCBI36
NG_007259.1:g.76239_76241del , LRG_47:g.76239_76241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1963-1872_1963-1870del
ENST00000695969.1:c.1697-1872_1697-1870del	ENSP00000512296.1:n.1697-1872_1697-1870del
ENST00000695970.1:c.1697-1872_1697-1870del	ENSP00000512297.1:n.1697-1872_1697-1870del
ENST00000695971.1:c.1676-1872_1676-1870del	ENSP00000512298.1:n.1676-1872_1676-1870del
ENST00000695972.1:c.1697-1872_1697-1870del	ENSP00000512299.1:n.1697-1872_1697-1870del
ENST00000695973.1:c.*61-1872_*61-1870del	ENSP00000512300.1:n.*61-1872_*61-1870del
ENST00000695974.1:c.1697-3221_1697-3219del	ENSP00000512301.1:n.1697-3221_1697-3219del
ENST00000695975.1:c.1697-1872_1697-1870del	ENSP00000512302.1:n.1697-1872_1697-1870del
ENST00000695976.1:c.1508-1872_1508-1870del	ENSP00000512303.1:n.1508-1872_1508-1870del
ENST00000695981.1:c.1697-1872_1697-1870del	ENSP00000512306.1:n.1697-1872_1697-1870del
ENST00000695983.1:c.1697-1872_1697-1870del	ENSP00000512308.1:n.1697-1872_1697-1870del
ENST00000695984.1:c.245-5097_245-5095del	ENSP00000512309.1:n.245-5097_245-5095del
ENST00000695986.1:c.*1348-1872_*1348-1870del	ENSP00000512311.1:n.*1348-1872_*1348-1870del
ENST00000696025.1:n.1781-1872_1781-1870del
ENST00000696026.1:c.1701-1878_1701-1876del	ENSP00000512335.1:n.1701-1878_1701-1876del
ENST00000696027.1:c.1697-1872_1697-1870del	ENSP00000512336.1:n.1697-1872_1697-1870del
ENST00000696028.1:c.1697-1872_1697-1870del	ENSP00000512337.1:n.1697-1872_1697-1870del
ENST00000696029.1:c.1697-1872_1697-1870del	ENSP00000512338.1:n.1697-1872_1697-1870del
ENST00000696031.1:c.*1215-1872_*1215-1870del	ENSP00000512340.1:n.*1215-1872_*1215-1870del
ENST00000696032.1:c.1697-1872_1697-1870del	ENSP00000512341.1:n.1697-1872_1697-1870del
ENST00000696033.1:c.1159+33635_1159+33637del	ENSP00000512342.1:n.1159+33635_1159+33637del
ENST00000367429.9:c.1697-1872_1697-1870del MANE Select	ENSP00000356399.4:n.1697-1872_1697-1870del
ENST00000367429.8:c.1697-1872_1697-1870del	ENSP00000356399.4:n.1697-1872_1697-1870del
ENST00000466229.5:n.3713-1872_3713-1870del
NM_000186.3:c.1697-1872_1697-1870del , LRG_47t1:c.1697-1872_1697-1870del	NP_000177.2:n.1697-1872_1697-1870del
XR_001737134.2:n.1883-1872_1883-1870del
NM_000186.4:c.1697-1872_1697-1870del MANE Select	NP_000177.2:n.1697-1872_1697-1870del