Canonical Allele Identifier: CA343989535

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716433C>G (hg19) ; chr1:g.196747303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747303C>G , CM000663.2:g.196747303C>G	GRCh38
NC_000001.10:g.196716433C>G , CM000663.1:g.196716433C>G	GRCh37
NC_000001.9:g.194983056C>G	NCBI36
NG_007259.1:g.100293C>G , LRG_47:g.100293C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4714C>G
ENST00000695970.1:c.3512C>G	ENSP00000512297.1:p.Ala1171Gly
ENST00000695971.1:c.3665C>G	ENSP00000512298.1:p.Ala1222Gly
ENST00000695972.1:c.*763C>G	ENSP00000512299.1:n.*763C>G
ENST00000695973.1:c.*2050C>G	ENSP00000512300.1:n.*2050C>G
ENST00000695974.1:c.3509C>G	ENSP00000512301.1:p.Ala1170Gly
ENST00000695975.1:c.*1813C>G	ENSP00000512302.1:n.*1813C>G
ENST00000695976.1:c.3497C>G	ENSP00000512303.1:p.Ala1166Gly
ENST00000695981.1:c.3580+106C>G	ENSP00000512306.1:n.3580+106C>G
ENST00000695984.1:c.1694C>G	ENSP00000512309.1:p.Ala565Gly
ENST00000695986.1:c.*3337C>G	ENSP00000512311.1:n.*3337C>G
ENST00000695990.1:n.720C>G
ENST00000696026.1:c.*1968C>G	ENSP00000512335.1:n.*1968C>G
ENST00000696027.1:c.3680C>G	ENSP00000512336.1:p.Ala1227Gly
ENST00000696028.1:c.3614C>G	ENSP00000512337.1:p.Ala1205Gly
ENST00000696029.1:c.3680C>G	ENSP00000512338.1:p.Ala1227Gly
ENST00000696031.1:c.*3204C>G	ENSP00000512340.1:n.*3204C>G
ENST00000696032.1:c.3580+106C>G	ENSP00000512341.1:n.3580+106C>G
ENST00000696033.1:c.1160-32494C>G	ENSP00000512342.1:n.1160-32494C>G
ENST00000367429.9:c.3686C>G MANE Select	ENSP00000356399.4:p.Ala1229Gly
ENST00000367429.8:c.3686C>G	ENSP00000356399.4:p.Ala1229Gly
ENST00000466229.5:n.6784C>G
NM_000186.3:c.3686C>G , LRG_47t1:c.3686C>G	NP_000177.2:p.Ala1229Gly
XR_001737134.2:n.3872C>G
NM_000186.4:c.3686C>G MANE Select	NP_000177.2:p.Ala1229Gly