Canonical Allele Identifier: CA343993551

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196737487G>A , CM000663.2:g.196737487G>A	GRCh38
NC_000001.10:g.196706617G>A , CM000663.1:g.196706617G>A	GRCh37
NC_000001.9:g.194973240G>A	NCBI36
NG_007259.1:g.90477G>A , LRG_47:g.90477G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.2609G>A MANE Select	NP_000177.2:p.Cys870Tyr
ENST00000367429.9:c.2609G>A MANE Select	ENSP00000356399.4:p.Cys870Tyr
NM_000186.3:c.2609G>A , LRG_47t1:c.2609G>A	NP_000177.2:p.Cys870Tyr
ENST00000367429.8:c.2609G>A	ENSP00000356399.4:p.Cys870Tyr
ENST00000466229.5:n.4625G>A
ENST00000470918.1:n.112G>A
ENST00000470918.2:n.2875G>A
ENST00000695969.1:c.2609G>A	ENSP00000512296.1:p.Cys870Tyr
ENST00000695970.1:c.2609G>A	ENSP00000512297.1:p.Cys870Tyr
ENST00000695971.1:c.2588G>A	ENSP00000512298.1:p.Cys863Tyr
ENST00000695972.1:c.2233-3177G>A	ENSP00000512299.1:n.2233-3177G>A
ENST00000695973.1:c.*973G>A	ENSP00000512300.1:n.*973G>A
ENST00000695974.1:c.2432G>A	ENSP00000512301.1:p.Cys811Tyr
ENST00000695975.1:c.*736G>A	ENSP00000512302.1:n.*736G>A
ENST00000695976.1:c.2420G>A	ENSP00000512303.1:p.Cys807Tyr
ENST00000695981.1:c.2609G>A	ENSP00000512306.1:p.Cys870Tyr
ENST00000695983.1:c.2609G>A	ENSP00000512308.1:p.Cys870Tyr
ENST00000695984.1:c.617G>A	ENSP00000512309.1:p.Cys206Tyr
ENST00000695986.1:c.*2260G>A	ENSP00000512311.1:n.*2260G>A
ENST00000696025.1:n.2693G>A
ENST00000696026.1:c.*891G>A	ENSP00000512335.1:n.*891G>A
ENST00000696027.1:c.2603G>A	ENSP00000512336.1:p.Cys868Tyr
ENST00000696028.1:c.2609G>A	ENSP00000512337.1:p.Cys870Tyr
ENST00000696029.1:c.2609G>A	ENSP00000512338.1:p.Cys870Tyr
ENST00000696031.1:c.*2127G>A	ENSP00000512340.1:n.*2127G>A
ENST00000696032.1:c.2609G>A	ENSP00000512341.1:p.Cys870Tyr
ENST00000696033.1:c.1160-42310G>A	ENSP00000512342.1:n.1160-42310G>A
XR_001737134.2:n.2795G>A