Canonical Allele Identifier: CA1305687

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196737014G>T , CM000663.2:g.196737014G>T	GRCh38
NC_000001.10:g.196706144G>T , CM000663.1:g.196706144G>T	GRCh37
NC_000001.9:g.194972767G>T	NCBI36
NG_007259.1:g.90004G>T , LRG_47:g.90004G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.2596+8G>T MANE Select	NP_000177.2:n.2596+8G>T
ENST00000367429.9:c.2596+8G>T MANE Select	ENSP00000356399.4:n.2596+8G>T
NM_000186.3:c.2596+8G>T , LRG_47t1:c.2596+8G>T	NP_000177.2:n.2596+8G>T
ENST00000367429.8:c.2596+8G>T	ENSP00000356399.4:n.2596+8G>T
ENST00000466229.5:n.4612+8G>T
ENST00000470918.1:n.99+8G>T
ENST00000470918.2:n.2862+8G>T
ENST00000695969.1:c.2596+8G>T	ENSP00000512296.1:n.2596+8G>T
ENST00000695970.1:c.2596+8G>T	ENSP00000512297.1:n.2596+8G>T
ENST00000695971.1:c.2575+8G>T	ENSP00000512298.1:n.2575+8G>T
ENST00000695972.1:c.2233-3650G>T	ENSP00000512299.1:n.2233-3650G>T
ENST00000695973.1:c.*960+8G>T	ENSP00000512300.1:n.*960+8G>T
ENST00000695974.1:c.2419+8G>T	ENSP00000512301.1:n.2419+8G>T
ENST00000695975.1:c.*723+8G>T	ENSP00000512302.1:n.*723+8G>T
ENST00000695976.1:c.2407+8G>T	ENSP00000512303.1:n.2407+8G>T
ENST00000695981.1:c.2596+8G>T	ENSP00000512306.1:n.2596+8G>T
ENST00000695983.1:c.2596+8G>T	ENSP00000512308.1:n.2596+8G>T
ENST00000695984.1:c.604+8G>T	ENSP00000512309.1:n.604+8G>T
ENST00000695986.1:c.*2247+8G>T	ENSP00000512311.1:n.*2247+8G>T
ENST00000696025.1:n.2680+8G>T
ENST00000696026.1:c.*878+8G>T	ENSP00000512335.1:n.*878+8G>T
ENST00000696027.1:c.2590+8G>T	ENSP00000512336.1:n.2590+8G>T
ENST00000696028.1:c.2596+8G>T	ENSP00000512337.1:n.2596+8G>T
ENST00000696029.1:c.2596+8G>T	ENSP00000512338.1:n.2596+8G>T
ENST00000696031.1:c.*2114+8G>T	ENSP00000512340.1:n.*2114+8G>T
ENST00000696032.1:c.2596+8G>T	ENSP00000512341.1:n.2596+8G>T
ENST00000696033.1:c.1160-42783G>T	ENSP00000512342.1:n.1160-42783G>T
XR_001737134.2:n.2782+8G>T