Canonical Allele Identifier: CA343993151

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196736985C>T , CM000663.2:g.196736985C>T	GRCh38
NC_000001.10:g.196706115C>T , CM000663.1:g.196706115C>T	GRCh37
NC_000001.9:g.194972738C>T	NCBI36
NG_007259.1:g.89975C>T , LRG_47:g.89975C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.2575C>T MANE Select	NP_000177.2:p.Gln859Ter
ENST00000367429.9:c.2575C>T MANE Select	ENSP00000356399.4:p.Gln859Ter
NM_000186.3:c.2575C>T , LRG_47t1:c.2575C>T	NP_000177.2:p.Gln859Ter
ENST00000367429.8:c.2575C>T	ENSP00000356399.4:p.Gln859Ter
ENST00000466229.5:n.4591C>T
ENST00000470918.1:n.78C>T
ENST00000470918.2:n.2841C>T
ENST00000695969.1:c.2575C>T	ENSP00000512296.1:p.Gln859Ter
ENST00000695970.1:c.2575C>T	ENSP00000512297.1:p.Gln859Ter
ENST00000695971.1:c.2554C>T	ENSP00000512298.1:p.Gln852Ter
ENST00000695972.1:c.2233-3679C>T	ENSP00000512299.1:n.2233-3679C>T
ENST00000695973.1:c.*939C>T	ENSP00000512300.1:n.*939C>T
ENST00000695974.1:c.2398C>T	ENSP00000512301.1:p.Gln800Ter
ENST00000695975.1:c.*702C>T	ENSP00000512302.1:n.*702C>T
ENST00000695976.1:c.2386C>T	ENSP00000512303.1:p.Gln796Ter
ENST00000695981.1:c.2575C>T	ENSP00000512306.1:p.Gln859Ter
ENST00000695983.1:c.2575C>T	ENSP00000512308.1:p.Gln859Ter
ENST00000695984.1:c.583C>T	ENSP00000512309.1:p.Gln195Ter
ENST00000695986.1:c.*2226C>T	ENSP00000512311.1:n.*2226C>T
ENST00000696025.1:n.2659C>T
ENST00000696026.1:c.*857C>T	ENSP00000512335.1:n.*857C>T
ENST00000696027.1:c.2569C>T	ENSP00000512336.1:p.Gln857Ter
ENST00000696028.1:c.2575C>T	ENSP00000512337.1:p.Gln859Ter
ENST00000696029.1:c.2575C>T	ENSP00000512338.1:p.Gln859Ter
ENST00000696031.1:c.*2093C>T	ENSP00000512340.1:n.*2093C>T
ENST00000696032.1:c.2575C>T	ENSP00000512341.1:p.Gln859Ter
ENST00000696033.1:c.1160-42812C>T	ENSP00000512342.1:n.1160-42812C>T
XR_001737134.2:n.2761C>T