Canonical Allele Identifier: CA1217770750

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747156C= , CM000663.2:g.196747156C=	GRCh38
NC_000001.10:g.196716286C= , CM000663.1:g.196716286C=	GRCh37
NC_000001.9:g.194982909C=	NCBI36
NG_007259.1:g.100146C= , LRG_47:g.100146C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4567C=
ENST00000695970.1:c.3365C=	ENSP00000512297.1:p.Ala1122=
ENST00000695971.1:c.3518C=	ENSP00000512298.1:p.Ala1173=
ENST00000695972.1:c.*616C=	ENSP00000512299.1:n.*616C=
ENST00000695973.1:c.*1903C=	ENSP00000512300.1:n.*1903C=
ENST00000695974.1:c.3362C=	ENSP00000512301.1:p.Ala1121=
ENST00000695975.1:c.*1666C=	ENSP00000512302.1:n.*1666C=
ENST00000695976.1:c.3350C=	ENSP00000512303.1:p.Ala1117=
ENST00000695981.1:c.3539C=	ENSP00000512306.1:p.Ala1180=
ENST00000695984.1:c.1547C=	ENSP00000512309.1:p.Ala516=
ENST00000695986.1:c.*3190C=	ENSP00000512311.1:n.*3190C=
ENST00000695990.1:n.573C=
ENST00000696026.1:c.*1821C=	ENSP00000512335.1:n.*1821C=
ENST00000696027.1:c.3533C=	ENSP00000512336.1:p.Ala1178=
ENST00000696028.1:c.3467C=	ENSP00000512337.1:p.Ala1156=
ENST00000696029.1:c.3533C=	ENSP00000512338.1:p.Ala1178=
ENST00000696031.1:c.*3057C=	ENSP00000512340.1:n.*3057C=
ENST00000696032.1:c.3539C=	ENSP00000512341.1:p.Ala1180=
ENST00000696033.1:c.1160-32641C=	ENSP00000512342.1:n.1160-32641C=
ENST00000367429.9:c.3539C= MANE Select	ENSP00000356399.4:p.Ala1180=
ENST00000367429.8:c.3539C=	ENSP00000356399.4:p.Ala1180=
ENST00000466229.5:n.6637C=
NM_000186.3:c.3539C= , LRG_47t1:c.3539C=	NP_000177.2:p.Ala1180=
XR_001737134.2:n.3725C=
NM_000186.4:c.3539C= MANE Select	NP_000177.2:p.Ala1180=