Canonical Allele Identifier: CA1305665

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196736834A>G , CM000663.2:g.196736834A>G	GRCh38
NC_000001.10:g.196705964A>G , CM000663.1:g.196705964A>G	GRCh37
NC_000001.9:g.194972587A>G	NCBI36
NG_007259.1:g.89824A>G , LRG_47:g.89824A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.2424A>G MANE Select	NP_000177.2:p.Ile808Met
ENST00000367429.9:c.2424A>G MANE Select	ENSP00000356399.4:p.Ile808Met
NM_000186.3:c.2424A>G , LRG_47t1:c.2424A>G	NP_000177.2:p.Ile808Met
ENST00000367429.8:c.2424A>G	ENSP00000356399.4:p.Ile808Met
ENST00000466229.5:n.4440A>G
ENST00000470918.2:n.2690A>G
ENST00000695969.1:c.2424A>G	ENSP00000512296.1:p.Ile808Met
ENST00000695970.1:c.2424A>G	ENSP00000512297.1:p.Ile808Met
ENST00000695971.1:c.2403A>G	ENSP00000512298.1:p.Ile801Met
ENST00000695972.1:c.2233-3830A>G	ENSP00000512299.1:n.2233-3830A>G
ENST00000695973.1:c.*788A>G	ENSP00000512300.1:n.*788A>G
ENST00000695974.1:c.2247A>G	ENSP00000512301.1:p.Ile749Met
ENST00000695975.1:c.*551A>G	ENSP00000512302.1:n.*551A>G
ENST00000695976.1:c.2235A>G	ENSP00000512303.1:p.Ile745Met
ENST00000695981.1:c.2424A>G	ENSP00000512306.1:p.Ile808Met
ENST00000695983.1:c.2424A>G	ENSP00000512308.1:p.Ile808Met
ENST00000695984.1:c.432A>G	ENSP00000512309.1:p.Ile144Met
ENST00000695986.1:c.*2075A>G	ENSP00000512311.1:n.*2075A>G
ENST00000696025.1:n.2508A>G
ENST00000696026.1:c.*706A>G	ENSP00000512335.1:n.*706A>G
ENST00000696027.1:c.2418A>G	ENSP00000512336.1:p.Ile806Met
ENST00000696028.1:c.2424A>G	ENSP00000512337.1:p.Ile808Met
ENST00000696029.1:c.2424A>G	ENSP00000512338.1:p.Ile808Met
ENST00000696031.1:c.*1942A>G	ENSP00000512340.1:n.*1942A>G
ENST00000696032.1:c.2424A>G	ENSP00000512341.1:p.Ile808Met
ENST00000696033.1:c.1160-42963A>G	ENSP00000512342.1:n.1160-42963A>G
XR_001737134.2:n.2610A>G