Canonical Allele Identifier: CA1217770810

Gene: CFH

Linked Data

• dbSNP Id: rs1653052298

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747340_196747341insGTTATAA , CM000663.2:g.196747340_196747341insGTTATAA	GRCh38
NC_000001.10:g.196716470_196716471insGTTATAA , CM000663.1:g.196716470_196716471insGTTATAA	GRCh37
NC_000001.9:g.194983093_194983094insGTTATAA	NCBI36
NG_007259.1:g.100330_100331insGTTATAA , LRG_47:g.100330_100331insGTTATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4751_4752insGTTATAA
ENST00000695970.1:c.*27_*28insGTTATAA	ENSP00000512297.1:n.*27_*28insGTTATAA
ENST00000695971.1:c.*27_*28insGTTATAA	ENSP00000512298.1:n.*27_*28insGTTATAA
ENST00000695972.1:c.*800_*801insGTTATAA	ENSP00000512299.1:n.*800_*801insGTTATAA
ENST00000695973.1:c.*2087_*2088insGTTATAA	ENSP00000512300.1:n.*2087_*2088insGTTATAA
ENST00000695974.1:c.*27_*28insGTTATAA	ENSP00000512301.1:n.*27_*28insGTTATAA
ENST00000695975.1:c.*1850_*1851insGTTATAA	ENSP00000512302.1:n.*1850_*1851insGTTATAA
ENST00000695976.1:c.*27_*28insGTTATAA	ENSP00000512303.1:n.*27_*28insGTTATAA
ENST00000695981.1:c.3580+143_3580+144insGTTATAA	ENSP00000512306.1:n.3580+143_3580+144insGTTATAA
ENST00000695984.1:c.*27_*28insGTTATAA	ENSP00000512309.1:n.*27_*28insGTTATAA
ENST00000695986.1:c.*3374_*3375insGTTATAA	ENSP00000512311.1:n.*3374_*3375insGTTATAA
ENST00000695990.1:n.757_758insGTTATAA
ENST00000696026.1:c.*2005_*2006insGTTATAA	ENSP00000512335.1:n.*2005_*2006insGTTATAA
ENST00000696027.1:c.*27_*28insGTTATAA	ENSP00000512336.1:n.*27_*28insGTTATAA
ENST00000696028.1:c.*27_*28insGTTATAA	ENSP00000512337.1:n.*27_*28insGTTATAA
ENST00000696029.1:c.*27_*28insGTTATAA	ENSP00000512338.1:n.*27_*28insGTTATAA
ENST00000696031.1:c.*3241_*3242insGTTATAA	ENSP00000512340.1:n.*3241_*3242insGTTATAA
ENST00000696032.1:c.3580+143_3580+144insGTTATAA	ENSP00000512341.1:n.3580+143_3580+144insGTTATAA
ENST00000696033.1:c.1160-32457_1160-32456insGTTATAA	ENSP00000512342.1:n.1160-32457_1160-32456insGTTATAA
ENST00000367429.9:c.*27_*28insGTTATAA MANE Select	ENSP00000356399.4:n.*27_*28insGTTATAA
ENST00000367429.8:c.*27_*28insGTTATAA	ENSP00000356399.4:n.*27_*28insGTTATAA
ENST00000466229.5:n.6821_6822insGTTATAA
NM_000186.3:c.*27_*28insGTTATAA , LRG_47t1:c.*27_*28insGTTATAA	NP_000177.2:n.*27_*28insGTTATAA
XR_001737134.2:n.3909_3910insGTTATAA
NM_000186.4:c.*27_*28insGTTATAA MANE Select	NP_000177.2:n.*27_*28insGTTATAA