Canonical Allele Identifier: CA1217769091

Gene: CFH

Linked Data

• dbSNP Id: rs549620744

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743707A>C , CM000663.2:g.196743707A>C	GRCh38
NC_000001.10:g.196712837A>C , CM000663.1:g.196712837A>C	GRCh37
NC_000001.9:g.194979460A>C	NCBI36
NG_007259.1:g.96697A>C , LRG_47:g.96697A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+79A>C
ENST00000695970.1:c.3136+79A>C	ENSP00000512297.1:n.3136+79A>C
ENST00000695971.1:c.3289+79A>C	ENSP00000512298.1:n.3289+79A>C
ENST00000695972.1:c.*387+79A>C	ENSP00000512299.1:n.*387+79A>C
ENST00000695973.1:c.*1674+79A>C	ENSP00000512300.1:n.*1674+79A>C
ENST00000695974.1:c.3133+79A>C	ENSP00000512301.1:n.3133+79A>C
ENST00000695975.1:c.*1437+79A>C	ENSP00000512302.1:n.*1437+79A>C
ENST00000695976.1:c.3121+79A>C	ENSP00000512303.1:n.3121+79A>C
ENST00000695981.1:c.3310+79A>C	ENSP00000512306.1:n.3310+79A>C
ENST00000695984.1:c.1318+79A>C	ENSP00000512309.1:n.1318+79A>C
ENST00000695986.1:c.*2961+79A>C	ENSP00000512311.1:n.*2961+79A>C
ENST00000696026.1:c.*1592+79A>C	ENSP00000512335.1:n.*1592+79A>C
ENST00000696027.1:c.3304+79A>C	ENSP00000512336.1:n.3304+79A>C
ENST00000696028.1:c.3238+79A>C	ENSP00000512337.1:n.3238+79A>C
ENST00000696029.1:c.3304+79A>C	ENSP00000512338.1:n.3304+79A>C
ENST00000696031.1:c.*2828+79A>C	ENSP00000512340.1:n.*2828+79A>C
ENST00000696032.1:c.3310+79A>C	ENSP00000512341.1:n.3310+79A>C
ENST00000696033.1:c.1160-36090A>C	ENSP00000512342.1:n.1160-36090A>C
ENST00000367429.9:c.3310+79A>C MANE Select	ENSP00000356399.4:n.3310+79A>C
ENST00000367429.8:c.3310+79A>C	ENSP00000356399.4:n.3310+79A>C
ENST00000466229.5:n.6408+79A>C
NM_000186.3:c.3310+79A>C , LRG_47t1:c.3310+79A>C	NP_000177.2:n.3310+79A>C
XR_001737134.2:n.3496+79A>C
NM_000186.4:c.3310+79A>C MANE Select	NP_000177.2:n.3310+79A>C