Canonical Allele Identifier: CA1305812

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196741963T>C , CM000663.2:g.196741963T>C	GRCh38
NC_000001.10:g.196711093T>C , CM000663.1:g.196711093T>C	GRCh37
NC_000001.9:g.194977716T>C	NCBI36
NG_007259.1:g.94953T>C , LRG_47:g.94953T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000186.4:c.3045T>C MANE Select	NP_000177.2:p.Thr1015=
ENST00000367429.9:c.3045T>C MANE Select	ENSP00000356399.4:p.Thr1015=
NM_000186.3:c.3045T>C , LRG_47t1:c.3045T>C	NP_000177.2:p.Thr1015=
ENST00000367429.8:c.3045T>C	ENSP00000356399.4:p.Thr1015=
ENST00000466229.5:n.6143T>C
ENST00000470918.2:n.4073T>C
ENST00000695970.1:c.2871T>C	ENSP00000512297.1:p.Thr957=
ENST00000695971.1:c.3024T>C	ENSP00000512298.1:p.Thr1008=
ENST00000695972.1:c.*122T>C	ENSP00000512299.1:n.*122T>C
ENST00000695973.1:c.*1409T>C	ENSP00000512300.1:n.*1409T>C
ENST00000695974.1:c.2868T>C	ENSP00000512301.1:p.Thr956=
ENST00000695975.1:c.*1172T>C	ENSP00000512302.1:n.*1172T>C
ENST00000695976.1:c.2856T>C	ENSP00000512303.1:p.Thr952=
ENST00000695981.1:c.3045T>C	ENSP00000512306.1:p.Thr1015=
ENST00000695984.1:c.1053T>C	ENSP00000512309.1:p.Thr351=
ENST00000695986.1:c.*2696T>C	ENSP00000512311.1:n.*2696T>C
ENST00000696026.1:c.*1327T>C	ENSP00000512335.1:n.*1327T>C
ENST00000696027.1:c.3039T>C	ENSP00000512336.1:p.Thr1013=
ENST00000696028.1:c.2973T>C	ENSP00000512337.1:p.Thr991=
ENST00000696029.1:c.3039T>C	ENSP00000512338.1:p.Thr1013=
ENST00000696031.1:c.*2563T>C	ENSP00000512340.1:n.*2563T>C
ENST00000696032.1:c.3045T>C	ENSP00000512341.1:p.Thr1015=
ENST00000696033.1:c.1160-37834T>C	ENSP00000512342.1:n.1160-37834T>C
XR_001737134.2:n.3231T>C