Canonical Allele Identifier: CA343980826

Gene: CFH

Linked Data

• COSMIC: COSM4026512
• MyVariant Identifiers: chr1:g.196659341G>C (hg19) ; chr1:g.196690211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690211G>C , CM000663.2:g.196690211G>C	GRCh38
NC_000001.10:g.196659341G>C , CM000663.1:g.196659341G>C	GRCh37
NC_000001.9:g.194925964G>C	NCBI36
NG_007259.1:g.43201G>C , LRG_47:g.43201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1116G>C	ENSP00000352658.2:p.Trp372Cys
ENST00000470918.2:n.1574G>C
ENST00000695968.1:c.1125G>C	ENSP00000512295.1:p.Trp375Cys
ENST00000695969.1:c.1308G>C	ENSP00000512296.1:p.Trp436Cys
ENST00000695970.1:c.1308G>C	ENSP00000512297.1:p.Trp436Cys
ENST00000695971.1:c.1287G>C	ENSP00000512298.1:p.Trp429Cys
ENST00000695972.1:c.1308G>C	ENSP00000512299.1:p.Trp436Cys
ENST00000695973.1:c.1308G>C	ENSP00000512300.1:p.Trp436Cys
ENST00000695974.1:c.1308G>C	ENSP00000512301.1:p.Trp436Cys
ENST00000695975.1:c.1308G>C	ENSP00000512302.1:p.Trp436Cys
ENST00000695976.1:c.1119G>C	ENSP00000512303.1:p.Trp373Cys
ENST00000695977.1:n.149G>C
ENST00000695978.1:c.1308G>C	ENSP00000512304.1:p.Trp436Cys
ENST00000695979.1:c.1287G>C	ENSP00000512305.1:p.Trp429Cys
ENST00000695980.1:n.1428G>C
ENST00000695981.1:c.1308G>C	ENSP00000512306.1:p.Trp436Cys
ENST00000695983.1:c.1308G>C	ENSP00000512308.1:p.Trp436Cys
ENST00000695984.1:c.244+17048G>C	ENSP00000512309.1:n.244+17048G>C
ENST00000695986.1:c.*959G>C	ENSP00000512311.1:n.*959G>C
ENST00000695987.1:c.1119G>C	ENSP00000512312.1:p.Trp373Cys
ENST00000696018.1:n.1392G>C
ENST00000696019.1:n.1392G>C
ENST00000696020.1:n.1392G>C
ENST00000696021.1:n.1371G>C
ENST00000696022.1:n.1392G>C
ENST00000696023.1:c.1308G>C	ENSP00000512334.1:p.Trp436Cys
ENST00000696024.1:n.1392G>C
ENST00000696025.1:n.1392G>C
ENST00000696026.1:c.1308G>C	ENSP00000512335.1:p.Trp436Cys
ENST00000696027.1:c.1308G>C	ENSP00000512336.1:p.Trp436Cys
ENST00000696028.1:c.1308G>C	ENSP00000512337.1:p.Trp436Cys
ENST00000696029.1:c.1308G>C	ENSP00000512338.1:p.Trp436Cys
ENST00000696030.1:c.1233G>C	ENSP00000512339.1:p.Trp411Cys
ENST00000696031.1:c.*826G>C	ENSP00000512340.1:n.*826G>C
ENST00000696032.1:c.1308G>C	ENSP00000512341.1:p.Trp436Cys
ENST00000696033.1:c.1159+597G>C	ENSP00000512342.1:n.1159+597G>C
ENST00000367429.9:c.1308G>C MANE Select	ENSP00000356399.4:p.Trp436Cys
ENST00000359637.2:c.1116G>C	ENSP00000352658.2:p.Trp372Cys
ENST00000367429.8:c.1308G>C	ENSP00000356399.4:p.Trp436Cys
ENST00000466229.5:n.3324G>C
ENST00000630130.2:c.1308G>C	ENSP00000487250.1:p.Trp436Cys
NM_000186.3:c.1308G>C , LRG_47t1:c.1308G>C	NP_000177.2:p.Trp436Cys
NM_001014975.2:c.1308G>C	NP_001014975.1:p.Trp436Cys
XM_017001108.2:c.1308G>C	XP_016856597.1:p.Trp436Cys
XR_001737134.2:n.1393G>C
NM_000186.4:c.1308G>C MANE Select	NP_000177.2:p.Trp436Cys
NM_001014975.3:c.1308G>C	NP_001014975.1:p.Trp436Cys