Canonical Allele Identifier: CA343981426

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196741921G>C , CM000663.2:g.196741921G>C	GRCh38
NC_000001.10:g.196711051G>C , CM000663.1:g.196711051G>C	GRCh37
NC_000001.9:g.194977674G>C	NCBI36
NG_007259.1:g.94911G>C , LRG_47:g.94911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4031G>C
ENST00000695970.1:c.2829G>C	ENSP00000512297.1:p.Met943Ile
ENST00000695971.1:c.2982G>C	ENSP00000512298.1:p.Met994Ile
ENST00000695972.1:c.*80G>C	ENSP00000512299.1:n.*80G>C
ENST00000695973.1:c.*1367G>C	ENSP00000512300.1:n.*1367G>C
ENST00000695974.1:c.2826G>C	ENSP00000512301.1:p.Met942Ile
ENST00000695975.1:c.*1130G>C	ENSP00000512302.1:n.*1130G>C
ENST00000695976.1:c.2814G>C	ENSP00000512303.1:p.Met938Ile
ENST00000695981.1:c.3003G>C	ENSP00000512306.1:p.Met1001Ile
ENST00000695983.1:c.2909G>C	ENSP00000512308.1:p.Trp970Ser
ENST00000695984.1:c.1011G>C	ENSP00000512309.1:p.Met337Ile
ENST00000695986.1:c.*2654G>C	ENSP00000512311.1:n.*2654G>C
ENST00000696026.1:c.*1285G>C	ENSP00000512335.1:n.*1285G>C
ENST00000696027.1:c.2997G>C	ENSP00000512336.1:p.Met999Ile
ENST00000696028.1:c.2931G>C	ENSP00000512337.1:p.Met977Ile
ENST00000696029.1:c.2997G>C	ENSP00000512338.1:p.Met999Ile
ENST00000696031.1:c.*2521G>C	ENSP00000512340.1:n.*2521G>C
ENST00000696032.1:c.3003G>C	ENSP00000512341.1:p.Met1001Ile
ENST00000696033.1:c.1160-37876G>C	ENSP00000512342.1:n.1160-37876G>C
ENST00000367429.9:c.3003G>C MANE Select	ENSP00000356399.4:p.Met1001Ile
ENST00000367429.8:c.3003G>C	ENSP00000356399.4:p.Met1001Ile
ENST00000466229.5:n.6101G>C
NM_000186.3:c.3003G>C , LRG_47t1:c.3003G>C	NP_000177.2:p.Met1001Ile
XR_001737134.2:n.3189G>C
NM_000186.4:c.3003G>C MANE Select	NP_000177.2:p.Met1001Ile