Canonical Allele Identifier: CA2649646841

Gene: CFH

Linked Data

• gnomAD v4: 1-196743448-TCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743451_196743454del , CM000663.2:g.196743451_196743454del	GRCh38
NC_000001.10:g.196712581_196712584del , CM000663.1:g.196712581_196712584del	GRCh37
NC_000001.9:g.194979204_194979207del	NCBI36
NG_007259.1:g.96441_96444del , LRG_47:g.96441_96444del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4162-1_4164del
ENST00000695970.1:c.2960-1_2962del
ENST00000695971.1:c.3113-1_3115del
ENST00000695972.1:c.*211-1_*213del
ENST00000695973.1:c.*1498-1_*1500del
ENST00000695974.1:c.2957-1_2959del
ENST00000695975.1:c.*1261-1_*1263del
ENST00000695976.1:c.2945-1_2947del
ENST00000695981.1:c.3134-1_3136del
ENST00000695984.1:c.1142-1_1144del
ENST00000695986.1:c.*2785-1_*2787del
ENST00000696026.1:c.*1416-1_*1418del
ENST00000696027.1:c.3128-1_3130del
ENST00000696028.1:c.3062-1_3064del
ENST00000696029.1:c.3128-1_3130del
ENST00000696031.1:c.*2652-1_*2654del
ENST00000696032.1:c.3134-1_3136del
ENST00000696033.1:c.1160-36346_1160-36343del	ENSP00000512342.1:n.1160-36346_1160-36343...
ENST00000367429.9:c.3134-1_3136del
ENST00000367429.8:c.3134-1_3136del
ENST00000466229.5:n.6232-1_6234del
NM_000186.3:c.3134-1_3136del , LRG_47t1:c.3134-1_3136del
XR_001737134.2:n.3320-1_3322del
NM_000186.4:c.3134-1_3136del