Canonical Allele Identifier: CA1217768990

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743509T= , CM000663.2:g.196743509T=	GRCh38
NC_000001.10:g.196712639T= , CM000663.1:g.196712639T=	GRCh37
NC_000001.9:g.194979262T=	NCBI36
NG_007259.1:g.96499T= , LRG_47:g.96499T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4219T=
ENST00000695970.1:c.3017T=	ENSP00000512297.1:p.Met1006=
ENST00000695971.1:c.3170T=	ENSP00000512298.1:p.Met1057=
ENST00000695972.1:c.*268T=	ENSP00000512299.1:n.*268T=
ENST00000695973.1:c.*1555T=	ENSP00000512300.1:n.*1555T=
ENST00000695974.1:c.3014T=	ENSP00000512301.1:p.Met1005=
ENST00000695975.1:c.*1318T=	ENSP00000512302.1:n.*1318T=
ENST00000695976.1:c.3002T=	ENSP00000512303.1:p.Met1001=
ENST00000695981.1:c.3191T=	ENSP00000512306.1:p.Met1064=
ENST00000695984.1:c.1199T=	ENSP00000512309.1:p.Met400=
ENST00000695986.1:c.*2842T=	ENSP00000512311.1:n.*2842T=
ENST00000696026.1:c.*1473T=	ENSP00000512335.1:n.*1473T=
ENST00000696027.1:c.3185T=	ENSP00000512336.1:p.Met1062=
ENST00000696028.1:c.3119T=	ENSP00000512337.1:p.Met1040=
ENST00000696029.1:c.3185T=	ENSP00000512338.1:p.Met1062=
ENST00000696031.1:c.*2709T=	ENSP00000512340.1:n.*2709T=
ENST00000696032.1:c.3191T=	ENSP00000512341.1:p.Met1064=
ENST00000696033.1:c.1160-36288T=	ENSP00000512342.1:n.1160-36288T=
ENST00000367429.9:c.3191T= MANE Select	ENSP00000356399.4:p.Met1064=
ENST00000367429.8:c.3191T=	ENSP00000356399.4:p.Met1064=
ENST00000466229.5:n.6289T=
NM_000186.3:c.3191T= , LRG_47t1:c.3191T=	NP_000177.2:p.Met1064=
XR_001737134.2:n.3377T=
NM_000186.4:c.3191T= MANE Select	NP_000177.2:p.Met1064=