Canonical Allele Identifier: CA2606695142

Gene: CFH

Linked Data

• gnomAD v3: 1-196743070-TAATC-T
• gnomAD v4: 1-196743070-TAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743071_196743074del , CM000663.2:g.196743071_196743074del	GRCh38
NC_000001.10:g.196712201_196712204del , CM000663.1:g.196712201_196712204del	GRCh37
NC_000001.9:g.194978824_194978827del	NCBI36
NG_007259.1:g.96061_96064del , LRG_47:g.96061_96064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-381_4162-378del
ENST00000695970.1:c.2960-381_2960-378del	ENSP00000512297.1:n.2960-381_2960-378del
ENST00000695971.1:c.3113-381_3113-378del	ENSP00000512298.1:n.3113-381_3113-378del
ENST00000695972.1:c.*211-381_*211-378del	ENSP00000512299.1:n.*211-381_*211-378del
ENST00000695973.1:c.*1498-381_*1498-378del	ENSP00000512300.1:n.*1498-381_*1498-378del
ENST00000695974.1:c.2957-381_2957-378del	ENSP00000512301.1:n.2957-381_2957-378del
ENST00000695975.1:c.*1261-381_*1261-378del	ENSP00000512302.1:n.*1261-381_*1261-378del
ENST00000695976.1:c.2945-381_2945-378del	ENSP00000512303.1:n.2945-381_2945-378del
ENST00000695981.1:c.3134-381_3134-378del	ENSP00000512306.1:n.3134-381_3134-378del
ENST00000695984.1:c.1142-381_1142-378del	ENSP00000512309.1:n.1142-381_1142-378del
ENST00000695986.1:c.*2785-381_*2785-378del	ENSP00000512311.1:n.*2785-381_*2785-378del
ENST00000696026.1:c.*1416-381_*1416-378del	ENSP00000512335.1:n.*1416-381_*1416-378del
ENST00000696027.1:c.3128-381_3128-378del	ENSP00000512336.1:n.3128-381_3128-378del
ENST00000696028.1:c.3062-381_3062-378del	ENSP00000512337.1:n.3062-381_3062-378del
ENST00000696029.1:c.3128-381_3128-378del	ENSP00000512338.1:n.3128-381_3128-378del
ENST00000696031.1:c.*2652-381_*2652-378del	ENSP00000512340.1:n.*2652-381_*2652-378del
ENST00000696032.1:c.3134-381_3134-378del	ENSP00000512341.1:n.3134-381_3134-378del
ENST00000696033.1:c.1160-36726_1160-36723del	ENSP00000512342.1:n.1160-36726_1160-36723del
ENST00000367429.9:c.3134-381_3134-378del MANE Select	ENSP00000356399.4:n.3134-381_3134-378del
ENST00000367429.8:c.3134-381_3134-378del	ENSP00000356399.4:n.3134-381_3134-378del
ENST00000466229.5:n.6232-381_6232-378del
NM_000186.3:c.3134-381_3134-378del , LRG_47t1:c.3134-381_3134-378del	NP_000177.2:n.3134-381_3134-378del
XR_001737134.2:n.3320-381_3320-378del
NM_000186.4:c.3134-381_3134-378del MANE Select	NP_000177.2:n.3134-381_3134-378del