Canonical Allele Identifier: CA1217768950

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743430_196743431delinsCA , CM000663.2:g.196743430_196743431delinsCA	GRCh38
NC_000001.10:g.196712560_196712561delinsCA , CM000663.1:g.196712560_196712561delinsCA	GRCh37
NC_000001.9:g.194979183_194979184delinsCA	NCBI36
NG_007259.1:g.96420_96421delinsCA , LRG_47:g.96420_96421delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-22_4162-21delinsCA
ENST00000695970.1:c.2960-22_2960-21delinsCA	ENSP00000512297.1:n.2960-22_2960-21delinsCA
ENST00000695971.1:c.3113-22_3113-21delinsCA	ENSP00000512298.1:n.3113-22_3113-21delinsCA
ENST00000695972.1:c.*211-22_*211-21delinsCA	ENSP00000512299.1:n.*211-22_*211-21delinsCA
ENST00000695973.1:c.*1498-22_*1498-21delinsCA	ENSP00000512300.1:n.*1498-22_*1498-21delinsCA
ENST00000695974.1:c.2957-22_2957-21delinsCA	ENSP00000512301.1:n.2957-22_2957-21delinsCA
ENST00000695975.1:c.*1261-22_*1261-21delinsCA	ENSP00000512302.1:n.*1261-22_*1261-21delinsCA
ENST00000695976.1:c.2945-22_2945-21delinsCA	ENSP00000512303.1:n.2945-22_2945-21delinsCA
ENST00000695981.1:c.3134-22_3134-21delinsCA	ENSP00000512306.1:n.3134-22_3134-21delinsCA
ENST00000695984.1:c.1142-22_1142-21delinsCA	ENSP00000512309.1:n.1142-22_1142-21delinsCA
ENST00000695986.1:c.*2785-22_*2785-21delinsCA	ENSP00000512311.1:n.*2785-22_*2785-21delinsCA
ENST00000696026.1:c.*1416-22_*1416-21delinsCA	ENSP00000512335.1:n.*1416-22_*1416-21delinsCA
ENST00000696027.1:c.3128-22_3128-21delinsCA	ENSP00000512336.1:n.3128-22_3128-21delinsCA
ENST00000696028.1:c.3062-22_3062-21delinsCA	ENSP00000512337.1:n.3062-22_3062-21delinsCA
ENST00000696029.1:c.3128-22_3128-21delinsCA	ENSP00000512338.1:n.3128-22_3128-21delinsCA
ENST00000696031.1:c.*2652-22_*2652-21delinsCA	ENSP00000512340.1:n.*2652-22_*2652-21delinsCA
ENST00000696032.1:c.3134-22_3134-21delinsCA	ENSP00000512341.1:n.3134-22_3134-21delinsCA
ENST00000696033.1:c.1160-36367_1160-36366delinsCA	ENSP00000512342.1:n.1160-36367_1160-36366delinsCA
ENST00000367429.9:c.3134-22_3134-21delinsCA MANE Select	ENSP00000356399.4:n.3134-22_3134-21delinsCA
ENST00000367429.8:c.3134-22_3134-21delinsCA	ENSP00000356399.4:n.3134-22_3134-21delinsCA
ENST00000466229.5:n.6232-22_6232-21delinsCA
NM_000186.3:c.3134-22_3134-21delinsCA , LRG_47t1:c.3134-22_3134-21delinsCA	NP_000177.2:n.3134-22_3134-21delinsCA
XR_001737134.2:n.3320-22_3320-21delinsCA
NM_000186.4:c.3134-22_3134-21delinsCA MANE Select	NP_000177.2:n.3134-22_3134-21delinsCA