Canonical Allele Identifier: CA2649646844

Gene: CFH

Linked Data

• gnomAD v4: 1-196743627-A-ACATTTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743627_196743628insCATTTTGG , CM000663.2:g.196743627_196743628insCATTTTGG	GRCh38
NC_000001.10:g.196712757_196712758insCATTTTGG , CM000663.1:g.196712757_196712758insCATTTTGG	GRCh37
NC_000001.9:g.194979380_194979381insCATTTTGG	NCBI36
NG_007259.1:g.96617_96618insCATTTTGG , LRG_47:g.96617_96618insCATTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4337_4338insCATTTTGG
ENST00000695970.1:c.3135_3136insCATTTTGG	ENSP00000512297.1:p.Asp1046HisfsTer?
ENST00000695971.1:c.3288_3289insCATTTTGG	ENSP00000512298.1:p.Asp1097HisfsTer?
ENST00000695972.1:c.*386_*387insCATTTTGG	ENSP00000512299.1:n.*386_*387insCATTTTGG
ENST00000695973.1:c.*1673_*1674insCATTTTGG	ENSP00000512300.1:n.*1673_*1674insCATTTTGG
ENST00000695974.1:c.3132_3133insCATTTTGG	ENSP00000512301.1:p.Asp1045HisfsTer?
ENST00000695975.1:c.*1436_*1437insCATTTTGG	ENSP00000512302.1:n.*1436_*1437insCATTTTGG
ENST00000695976.1:c.3120_3121insCATTTTGG	ENSP00000512303.1:p.Asp1041HisfsTer?
ENST00000695981.1:c.3309_3310insCATTTTGG	ENSP00000512306.1:p.Asp1104HisfsTer?
ENST00000695984.1:c.1317_1318insCATTTTGG	ENSP00000512309.1:p.Asp440HisfsTer?
ENST00000695986.1:c.*2960_*2961insCATTTTGG	ENSP00000512311.1:n.*2960_*2961insCATTTTGG
ENST00000696026.1:c.*1591_*1592insCATTTTGG	ENSP00000512335.1:n.*1591_*1592insCATTTTGG
ENST00000696027.1:c.3303_3304insCATTTTGG	ENSP00000512336.1:p.Asp1102HisfsTer?
ENST00000696028.1:c.3237_3238insCATTTTGG	ENSP00000512337.1:p.Asp1080HisfsTer?
ENST00000696029.1:c.3303_3304insCATTTTGG	ENSP00000512338.1:p.Asp1102HisfsTer?
ENST00000696031.1:c.*2827_*2828insCATTTTGG	ENSP00000512340.1:n.*2827_*2828insCATTTTGG
ENST00000696032.1:c.3309_3310insCATTTTGG	ENSP00000512341.1:p.Asp1104HisfsTer?
ENST00000696033.1:c.1160-36170_1160-36169insCATTTTGG	ENSP00000512342.1:n.1160-36170_1160-36169insCATTTTGG
ENST00000367429.9:c.3309_3310insCATTTTGG MANE Select	ENSP00000356399.4:p.Asp1104HisfsTer?
ENST00000367429.8:c.3309_3310insCATTTTGG	ENSP00000356399.4:p.Asp1104HisfsTer?
ENST00000466229.5:n.6407_6408insCATTTTGG
NM_000186.3:c.3309_3310insCATTTTGG , LRG_47t1:c.3309_3310insCATTTTGG	NP_000177.2:p.Asp1104HisfsTer?
XR_001737134.2:n.3495_3496insCATTTTGG
NM_000186.4:c.3309_3310insCATTTTGG MANE Select	NP_000177.2:p.Asp1104HisfsTer?