Canonical Allele Identifier: CA2649646813

Gene: CFH

Linked Data

• gnomAD v4: 1-196743385-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743387_196743388dup , CM000663.2:g.196743387_196743388dup	GRCh38
NC_000001.10:g.196712517_196712518dup , CM000663.1:g.196712517_196712518dup	GRCh37
NC_000001.9:g.194979140_194979141dup	NCBI36
NG_007259.1:g.96377_96378dup , LRG_47:g.96377_96378dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-65_4162-64dup
ENST00000695970.1:c.2960-65_2960-64dup	ENSP00000512297.1:n.2960-65_2960-64dup
ENST00000695971.1:c.3113-65_3113-64dup	ENSP00000512298.1:n.3113-65_3113-64dup
ENST00000695972.1:c.*211-65_*211-64dup	ENSP00000512299.1:n.*211-65_*211-64dup
ENST00000695973.1:c.*1498-65_*1498-64dup	ENSP00000512300.1:n.*1498-65_*1498-64dup
ENST00000695974.1:c.2957-65_2957-64dup	ENSP00000512301.1:n.2957-65_2957-64dup
ENST00000695975.1:c.*1261-65_*1261-64dup	ENSP00000512302.1:n.*1261-65_*1261-64dup
ENST00000695976.1:c.2945-65_2945-64dup	ENSP00000512303.1:n.2945-65_2945-64dup
ENST00000695981.1:c.3134-65_3134-64dup	ENSP00000512306.1:n.3134-65_3134-64dup
ENST00000695984.1:c.1142-65_1142-64dup	ENSP00000512309.1:n.1142-65_1142-64dup
ENST00000695986.1:c.*2785-65_*2785-64dup	ENSP00000512311.1:n.*2785-65_*2785-64dup
ENST00000696026.1:c.*1416-65_*1416-64dup	ENSP00000512335.1:n.*1416-65_*1416-64dup
ENST00000696027.1:c.3128-65_3128-64dup	ENSP00000512336.1:n.3128-65_3128-64dup
ENST00000696028.1:c.3062-65_3062-64dup	ENSP00000512337.1:n.3062-65_3062-64dup
ENST00000696029.1:c.3128-65_3128-64dup	ENSP00000512338.1:n.3128-65_3128-64dup
ENST00000696031.1:c.*2652-65_*2652-64dup	ENSP00000512340.1:n.*2652-65_*2652-64dup
ENST00000696032.1:c.3134-65_3134-64dup	ENSP00000512341.1:n.3134-65_3134-64dup
ENST00000696033.1:c.1160-36410_1160-36409dup	ENSP00000512342.1:n.1160-36410_1160-36409dup
ENST00000367429.9:c.3134-65_3134-64dup MANE Select	ENSP00000356399.4:n.3134-65_3134-64dup
ENST00000367429.8:c.3134-65_3134-64dup	ENSP00000356399.4:n.3134-65_3134-64dup
ENST00000466229.5:n.6232-65_6232-64dup
NM_000186.3:c.3134-65_3134-64dup , LRG_47t1:c.3134-65_3134-64dup	NP_000177.2:n.3134-65_3134-64dup
XR_001737134.2:n.3320-65_3320-64dup
NM_000186.4:c.3134-65_3134-64dup MANE Select	NP_000177.2:n.3134-65_3134-64dup