Canonical Allele Identifier: CA1217769038

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743614C= , CM000663.2:g.196743614C=	GRCh38
NC_000001.10:g.196712744C= , CM000663.1:g.196712744C=	GRCh37
NC_000001.9:g.194979367C=	NCBI36
NG_007259.1:g.96604C= , LRG_47:g.96604C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4324C=
ENST00000695970.1:c.3122C=	ENSP00000512297.1:p.Pro1041=
ENST00000695971.1:c.3275C=	ENSP00000512298.1:p.Pro1092=
ENST00000695972.1:c.*373C=	ENSP00000512299.1:n.*373C=
ENST00000695973.1:c.*1660C=	ENSP00000512300.1:n.*1660C=
ENST00000695974.1:c.3119C=	ENSP00000512301.1:p.Pro1040=
ENST00000695975.1:c.*1423C=	ENSP00000512302.1:n.*1423C=
ENST00000695976.1:c.3107C=	ENSP00000512303.1:p.Pro1036=
ENST00000695981.1:c.3296C=	ENSP00000512306.1:p.Pro1099=
ENST00000695984.1:c.1304C=	ENSP00000512309.1:p.Pro435=
ENST00000695986.1:c.*2947C=	ENSP00000512311.1:n.*2947C=
ENST00000696026.1:c.*1578C=	ENSP00000512335.1:n.*1578C=
ENST00000696027.1:c.3290C=	ENSP00000512336.1:p.Pro1097=
ENST00000696028.1:c.3224C=	ENSP00000512337.1:p.Pro1075=
ENST00000696029.1:c.3290C=	ENSP00000512338.1:p.Pro1097=
ENST00000696031.1:c.*2814C=	ENSP00000512340.1:n.*2814C=
ENST00000696032.1:c.3296C=	ENSP00000512341.1:p.Pro1099=
ENST00000696033.1:c.1160-36183C=	ENSP00000512342.1:n.1160-36183C=
ENST00000367429.9:c.3296C= MANE Select	ENSP00000356399.4:p.Pro1099=
ENST00000367429.8:c.3296C=	ENSP00000356399.4:p.Pro1099=
ENST00000466229.5:n.6394C=
NM_000186.3:c.3296C= , LRG_47t1:c.3296C=	NP_000177.2:p.Pro1099=
XR_001737134.2:n.3482C=
NM_000186.4:c.3296C= MANE Select	NP_000177.2:p.Pro1099=