Canonical Allele Identifier: CA1217768759

Gene: CFH

Linked Data

• dbSNP Id: rs1652868014

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743080_196743081dup , CM000663.2:g.196743080_196743081dup	GRCh38
NC_000001.10:g.196712210_196712211dup , CM000663.1:g.196712210_196712211dup	GRCh37
NC_000001.9:g.194978833_194978834dup	NCBI36
NG_007259.1:g.96070_96071dup , LRG_47:g.96070_96071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-372_4162-371dup
ENST00000695970.1:c.2960-372_2960-371dup	ENSP00000512297.1:n.2960-372_2960-371dup
ENST00000695971.1:c.3113-372_3113-371dup	ENSP00000512298.1:n.3113-372_3113-371dup
ENST00000695972.1:c.*211-372_*211-371dup	ENSP00000512299.1:n.*211-372_*211-371dup
ENST00000695973.1:c.*1498-372_*1498-371dup	ENSP00000512300.1:n.*1498-372_*1498-371dup
ENST00000695974.1:c.2957-372_2957-371dup	ENSP00000512301.1:n.2957-372_2957-371dup
ENST00000695975.1:c.*1261-372_*1261-371dup	ENSP00000512302.1:n.*1261-372_*1261-371dup
ENST00000695976.1:c.2945-372_2945-371dup	ENSP00000512303.1:n.2945-372_2945-371dup
ENST00000695981.1:c.3134-372_3134-371dup	ENSP00000512306.1:n.3134-372_3134-371dup
ENST00000695984.1:c.1142-372_1142-371dup	ENSP00000512309.1:n.1142-372_1142-371dup
ENST00000695986.1:c.*2785-372_*2785-371dup	ENSP00000512311.1:n.*2785-372_*2785-371dup
ENST00000696026.1:c.*1416-372_*1416-371dup	ENSP00000512335.1:n.*1416-372_*1416-371dup
ENST00000696027.1:c.3128-372_3128-371dup	ENSP00000512336.1:n.3128-372_3128-371dup
ENST00000696028.1:c.3062-372_3062-371dup	ENSP00000512337.1:n.3062-372_3062-371dup
ENST00000696029.1:c.3128-372_3128-371dup	ENSP00000512338.1:n.3128-372_3128-371dup
ENST00000696031.1:c.*2652-372_*2652-371dup	ENSP00000512340.1:n.*2652-372_*2652-371dup
ENST00000696032.1:c.3134-372_3134-371dup	ENSP00000512341.1:n.3134-372_3134-371dup
ENST00000696033.1:c.1160-36717_1160-36716dup	ENSP00000512342.1:n.1160-36717_1160-36716dup
ENST00000367429.9:c.3134-372_3134-371dup MANE Select	ENSP00000356399.4:n.3134-372_3134-371dup
ENST00000367429.8:c.3134-372_3134-371dup	ENSP00000356399.4:n.3134-372_3134-371dup
ENST00000466229.5:n.6232-372_6232-371dup
NM_000186.3:c.3134-372_3134-371dup , LRG_47t1:c.3134-372_3134-371dup	NP_000177.2:n.3134-372_3134-371dup
XR_001737134.2:n.3320-372_3320-371dup
NM_000186.4:c.3134-372_3134-371dup MANE Select	NP_000177.2:n.3134-372_3134-371dup