Canonical Allele Identifier: CA343989645

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716441T>G (hg19) ; chr1:g.196747311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747311T>G , CM000663.2:g.196747311T>G	GRCh38
NC_000001.10:g.196716441T>G , CM000663.1:g.196716441T>G	GRCh37
NC_000001.9:g.194983064T>G	NCBI36
NG_007259.1:g.100301T>G , LRG_47:g.100301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4722T>G
ENST00000695970.1:c.3520T>G	ENSP00000512297.1:p.Ter1174Glu
ENST00000695971.1:c.3673T>G	ENSP00000512298.1:p.Ter1225Glu
ENST00000695972.1:c.*771T>G	ENSP00000512299.1:n.*771T>G
ENST00000695973.1:c.*2058T>G	ENSP00000512300.1:n.*2058T>G
ENST00000695974.1:c.3517T>G	ENSP00000512301.1:p.Ter1173Glu
ENST00000695975.1:c.*1821T>G	ENSP00000512302.1:n.*1821T>G
ENST00000695976.1:c.3505T>G	ENSP00000512303.1:p.Ter1169Glu
ENST00000695981.1:c.3580+114T>G	ENSP00000512306.1:n.3580+114T>G
ENST00000695984.1:c.1702T>G	ENSP00000512309.1:p.Ter568Glu
ENST00000695986.1:c.*3345T>G	ENSP00000512311.1:n.*3345T>G
ENST00000695990.1:n.728T>G
ENST00000696026.1:c.*1976T>G	ENSP00000512335.1:n.*1976T>G
ENST00000696027.1:c.3688T>G	ENSP00000512336.1:p.Ter1230Glu
ENST00000696028.1:c.3622T>G	ENSP00000512337.1:p.Ter1208Glu
ENST00000696029.1:c.3688T>G	ENSP00000512338.1:p.Ter1230Glu
ENST00000696031.1:c.*3212T>G	ENSP00000512340.1:n.*3212T>G
ENST00000696032.1:c.3580+114T>G	ENSP00000512341.1:n.3580+114T>G
ENST00000696033.1:c.1160-32486T>G	ENSP00000512342.1:n.1160-32486T>G
ENST00000367429.9:c.3694T>G MANE Select	ENSP00000356399.4:p.Ter1232Glu
ENST00000367429.8:c.3694T>G	ENSP00000356399.4:p.Ter1232Glu
ENST00000466229.5:n.6792T>G
NM_000186.3:c.3694T>G , LRG_47t1:c.3694T>G	NP_000177.2:p.Ter1232Glu
XR_001737134.2:n.3880T>G
NM_000186.4:c.3694T>G MANE Select	NP_000177.2:p.Ter1232Glu