Canonical Allele Identifier: CA343989629

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716438A>G (hg19) ; chr1:g.196747308A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747308A>G , CM000663.2:g.196747308A>G	GRCh38
NC_000001.10:g.196716438A>G , CM000663.1:g.196716438A>G	GRCh37
NC_000001.9:g.194983061A>G	NCBI36
NG_007259.1:g.100298A>G , LRG_47:g.100298A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4719A>G
ENST00000695970.1:c.3517A>G	ENSP00000512297.1:p.Arg1173Gly
ENST00000695971.1:c.3670A>G	ENSP00000512298.1:p.Arg1224Gly
ENST00000695972.1:c.*768A>G	ENSP00000512299.1:n.*768A>G
ENST00000695973.1:c.*2055A>G	ENSP00000512300.1:n.*2055A>G
ENST00000695974.1:c.3514A>G	ENSP00000512301.1:p.Arg1172Gly
ENST00000695975.1:c.*1818A>G	ENSP00000512302.1:n.*1818A>G
ENST00000695976.1:c.3502A>G	ENSP00000512303.1:p.Arg1168Gly
ENST00000695981.1:c.3580+111A>G	ENSP00000512306.1:n.3580+111A>G
ENST00000695984.1:c.1699A>G	ENSP00000512309.1:p.Arg567Gly
ENST00000695986.1:c.*3342A>G	ENSP00000512311.1:n.*3342A>G
ENST00000695990.1:n.725A>G
ENST00000696026.1:c.*1973A>G	ENSP00000512335.1:n.*1973A>G
ENST00000696027.1:c.3685A>G	ENSP00000512336.1:p.Arg1229Gly
ENST00000696028.1:c.3619A>G	ENSP00000512337.1:p.Arg1207Gly
ENST00000696029.1:c.3685A>G	ENSP00000512338.1:p.Arg1229Gly
ENST00000696031.1:c.*3209A>G	ENSP00000512340.1:n.*3209A>G
ENST00000696032.1:c.3580+111A>G	ENSP00000512341.1:n.3580+111A>G
ENST00000696033.1:c.1160-32489A>G	ENSP00000512342.1:n.1160-32489A>G
ENST00000367429.9:c.3691A>G MANE Select	ENSP00000356399.4:p.Arg1231Gly
ENST00000367429.8:c.3691A>G	ENSP00000356399.4:p.Arg1231Gly
ENST00000466229.5:n.6789A>G
NM_000186.3:c.3691A>G , LRG_47t1:c.3691A>G	NP_000177.2:p.Arg1231Gly
XR_001737134.2:n.3877A>G
NM_000186.4:c.3691A>G MANE Select	NP_000177.2:p.Arg1231Gly