Canonical Allele Identifier: CA1144056360

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743470C= , CM000663.2:g.196743470C=	GRCh38
NC_000001.10:g.196712600C= , CM000663.1:g.196712600C=	GRCh37
NC_000001.9:g.194979223C=	NCBI36
NG_007259.1:g.96460C= , LRG_47:g.96460C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4180C=
ENST00000695970.1:c.2978C=	ENSP00000512297.1:p.Pro993=
ENST00000695971.1:c.3131C=	ENSP00000512298.1:p.Pro1044=
ENST00000695972.1:c.*229C=	ENSP00000512299.1:n.*229C=
ENST00000695973.1:c.*1516C=	ENSP00000512300.1:n.*1516C=
ENST00000695974.1:c.2975C=	ENSP00000512301.1:p.Pro992=
ENST00000695975.1:c.*1279C=	ENSP00000512302.1:n.*1279C=
ENST00000695976.1:c.2963C=	ENSP00000512303.1:p.Pro988=
ENST00000695981.1:c.3152C=	ENSP00000512306.1:p.Pro1051=
ENST00000695984.1:c.1160C=	ENSP00000512309.1:p.Pro387=
ENST00000695986.1:c.*2803C=	ENSP00000512311.1:n.*2803C=
ENST00000696026.1:c.*1434C=	ENSP00000512335.1:n.*1434C=
ENST00000696027.1:c.3146C=	ENSP00000512336.1:p.Pro1049=
ENST00000696028.1:c.3080C=	ENSP00000512337.1:p.Pro1027=
ENST00000696029.1:c.3146C=	ENSP00000512338.1:p.Pro1049=
ENST00000696031.1:c.*2670C=	ENSP00000512340.1:n.*2670C=
ENST00000696032.1:c.3152C=	ENSP00000512341.1:p.Pro1051=
ENST00000696033.1:c.1160-36327C=	ENSP00000512342.1:n.1160-36327C=
ENST00000367429.9:c.3152C= MANE Select	ENSP00000356399.4:p.Pro1051=
ENST00000367429.8:c.3152C=	ENSP00000356399.4:p.Pro1051=
ENST00000466229.5:n.6250C=
NM_000186.3:c.3152C= , LRG_47t1:c.3152C=	NP_000177.2:p.Pro1051=
XR_001737134.2:n.3338C=
NM_000186.4:c.3152C= MANE Select	NP_000177.2:p.Pro1051=