Canonical Allele Identifier: CA1140629318

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743436_196743443delinsTTTTTTTT , CM000663.2:g.196743436_196743443delinsTTTTTTTT	GRCh38
NC_000001.10:g.196712566_196712573delinsTTTTTTTT , CM000663.1:g.196712566_196712573delinsTTTTTTTT	GRCh37
NC_000001.9:g.194979189_194979196delinsTTTTTTTT	NCBI36
NG_007259.1:g.96426_96433delinsTTTTTTTT , LRG_47:g.96426_96433delinsTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-16_4162-9delinsTTTTTTTT
ENST00000695970.1:c.2960-16_2960-9delinsTTTTTTTT	ENSP00000512297.1:n.2960-16_2960-9delinsTTTTTTTT
ENST00000695971.1:c.3113-16_3113-9delinsTTTTTTTT	ENSP00000512298.1:n.3113-16_3113-9delinsTTTTTTTT
ENST00000695972.1:c.*211-16_*211-9delinsTTTTTTTT	ENSP00000512299.1:n.*211-16_*211-9delinsTTTTTTTT
ENST00000695973.1:c.*1498-16_*1498-9delinsTTTTTTTT	ENSP00000512300.1:n.*1498-16_*1498-9delinsTTTTTTTT
ENST00000695974.1:c.2957-16_2957-9delinsTTTTTTTT	ENSP00000512301.1:n.2957-16_2957-9delinsTTTTTTTT
ENST00000695975.1:c.*1261-16_*1261-9delinsTTTTTTTT	ENSP00000512302.1:n.*1261-16_*1261-9delinsTTTTTTTT
ENST00000695976.1:c.2945-16_2945-9delinsTTTTTTTT	ENSP00000512303.1:n.2945-16_2945-9delinsTTTTTTTT
ENST00000695981.1:c.3134-16_3134-9delinsTTTTTTTT	ENSP00000512306.1:n.3134-16_3134-9delinsTTTTTTTT
ENST00000695984.1:c.1142-16_1142-9delinsTTTTTTTT	ENSP00000512309.1:n.1142-16_1142-9delinsTTTTTTTT
ENST00000695986.1:c.*2785-16_*2785-9delinsTTTTTTTT	ENSP00000512311.1:n.*2785-16_*2785-9delinsTTTTTTTT
ENST00000696026.1:c.*1416-16_*1416-9delinsTTTTTTTT	ENSP00000512335.1:n.*1416-16_*1416-9delinsTTTTTTTT
ENST00000696027.1:c.3128-16_3128-9delinsTTTTTTTT	ENSP00000512336.1:n.3128-16_3128-9delinsTTTTTTTT
ENST00000696028.1:c.3062-16_3062-9delinsTTTTTTTT	ENSP00000512337.1:n.3062-16_3062-9delinsTTTTTTTT
ENST00000696029.1:c.3128-16_3128-9delinsTTTTTTTT	ENSP00000512338.1:n.3128-16_3128-9delinsTTTTTTTT
ENST00000696031.1:c.*2652-16_*2652-9delinsTTTTTTTT	ENSP00000512340.1:n.*2652-16_*2652-9delinsTTTTTTTT
ENST00000696032.1:c.3134-16_3134-9delinsTTTTTTTT	ENSP00000512341.1:n.3134-16_3134-9delinsTTTTTTTT
ENST00000696033.1:c.1160-36361_1160-36354delinsTTTTTTTT	ENSP00000512342.1:n.1160-36361_1160-36354delinsTTTTTTTT
ENST00000367429.9:c.3134-16_3134-9delinsTTTTTTTT MANE Select	ENSP00000356399.4:n.3134-16_3134-9delinsTTTTTTTT
ENST00000367429.8:c.3134-16_3134-9delinsTTTTTTTT	ENSP00000356399.4:n.3134-16_3134-9delinsTTTTTTTT
ENST00000466229.5:n.6232-16_6232-9delinsTTTTTTTT
NM_000186.3:c.3134-16_3134-9delinsTTTTTTTT , LRG_47t1:c.3134-16_3134-9delinsTTTTTTTT	NP_000177.2:n.3134-16_3134-9delinsTTTTTTTT
XR_001737134.2:n.3320-16_3320-9delinsTTTTTTTT
NM_000186.4:c.3134-16_3134-9delinsTTTTTTTT MANE Select	NP_000177.2:n.3134-16_3134-9delinsTTTTTTTT