Canonical Allele Identifier: CA2649646787

Gene: CFH

Linked Data

• gnomAD v4: 1-196743335-TTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743339_196743341del , CM000663.2:g.196743339_196743341del	GRCh38
NC_000001.10:g.196712469_196712471del , CM000663.1:g.196712469_196712471del	GRCh37
NC_000001.9:g.194979092_194979094del	NCBI36
NG_007259.1:g.96329_96331del , LRG_47:g.96329_96331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-113_4162-111del
ENST00000695970.1:c.2960-113_2960-111del	ENSP00000512297.1:n.2960-113_2960-111del
ENST00000695971.1:c.3113-113_3113-111del	ENSP00000512298.1:n.3113-113_3113-111del
ENST00000695972.1:c.*211-113_*211-111del	ENSP00000512299.1:n.*211-113_*211-111del
ENST00000695973.1:c.*1498-113_*1498-111del	ENSP00000512300.1:n.*1498-113_*1498-111del
ENST00000695974.1:c.2957-113_2957-111del	ENSP00000512301.1:n.2957-113_2957-111del
ENST00000695975.1:c.*1261-113_*1261-111del	ENSP00000512302.1:n.*1261-113_*1261-111del
ENST00000695976.1:c.2945-113_2945-111del	ENSP00000512303.1:n.2945-113_2945-111del
ENST00000695981.1:c.3134-113_3134-111del	ENSP00000512306.1:n.3134-113_3134-111del
ENST00000695984.1:c.1142-113_1142-111del	ENSP00000512309.1:n.1142-113_1142-111del
ENST00000695986.1:c.*2785-113_*2785-111del	ENSP00000512311.1:n.*2785-113_*2785-111del
ENST00000696026.1:c.*1416-113_*1416-111del	ENSP00000512335.1:n.*1416-113_*1416-111del
ENST00000696027.1:c.3128-113_3128-111del	ENSP00000512336.1:n.3128-113_3128-111del
ENST00000696028.1:c.3062-113_3062-111del	ENSP00000512337.1:n.3062-113_3062-111del
ENST00000696029.1:c.3128-113_3128-111del	ENSP00000512338.1:n.3128-113_3128-111del
ENST00000696031.1:c.*2652-113_*2652-111del	ENSP00000512340.1:n.*2652-113_*2652-111del
ENST00000696032.1:c.3134-113_3134-111del	ENSP00000512341.1:n.3134-113_3134-111del
ENST00000696033.1:c.1160-36458_1160-36456del	ENSP00000512342.1:n.1160-36458_1160-36456del
ENST00000367429.9:c.3134-113_3134-111del MANE Select	ENSP00000356399.4:n.3134-113_3134-111del
ENST00000367429.8:c.3134-113_3134-111del	ENSP00000356399.4:n.3134-113_3134-111del
ENST00000466229.5:n.6232-113_6232-111del
NM_000186.3:c.3134-113_3134-111del , LRG_47t1:c.3134-113_3134-111del	NP_000177.2:n.3134-113_3134-111del
XR_001737134.2:n.3320-113_3320-111del
NM_000186.4:c.3134-113_3134-111del MANE Select	NP_000177.2:n.3134-113_3134-111del