Canonical Allele Identifier: CA729677828

Gene: CFH

Linked Data

• dbSNP Id: rs1443786307
• gnomAD v3: 1-196691130-C-CG
• gnomAD v4: 1-196691130-C-CG
• MyVariant Identifiers: chr1:g.196660260_196660261insG (hg19) ; chr1:g.196691130_196691131insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196691130_196691131insG , CM000663.2:g.196691130_196691131insG	GRCh38
NC_000001.10:g.196660260_196660261insG , CM000663.1:g.196660260_196660261insG	GRCh37
NC_000001.9:g.194926883_194926884insG	NCBI36
NG_007259.1:g.44120_44121insG , LRG_47:g.44120_44121insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+891_1144+892insG	ENSP00000352658.2:n.1144+891_1144+892insG
ENST00000470918.2:n.1602+891_1602+892insG
ENST00000695968.1:c.1153+891_1153+892insG	ENSP00000512295.1:n.1153+891_1153+892insG
ENST00000695969.1:c.1336+891_1336+892insG	ENSP00000512296.1:n.1336+891_1336+892insG
ENST00000695970.1:c.1336+891_1336+892insG	ENSP00000512297.1:n.1336+891_1336+892insG
ENST00000695971.1:c.1315+891_1315+892insG	ENSP00000512298.1:n.1315+891_1315+892insG
ENST00000695972.1:c.1336+891_1336+892insG	ENSP00000512299.1:n.1336+891_1336+892insG
ENST00000695973.1:c.1336+891_1336+892insG	ENSP00000512300.1:n.1336+891_1336+892insG
ENST00000695974.1:c.1336+891_1336+892insG	ENSP00000512301.1:n.1336+891_1336+892insG
ENST00000695975.1:c.1336+891_1336+892insG	ENSP00000512302.1:n.1336+891_1336+892insG
ENST00000695976.1:c.1147+891_1147+892insG	ENSP00000512303.1:n.1147+891_1147+892insG
ENST00000695977.1:n.177+891_177+892insG
ENST00000695978.1:c.1340+887_1340+888insG	ENSP00000512304.1:n.1340+887_1340+888insG
ENST00000695979.1:c.1315+891_1315+892insG	ENSP00000512305.1:n.1315+891_1315+892insG
ENST00000695980.1:n.1456+891_1456+892insG
ENST00000695981.1:c.1336+891_1336+892insG	ENSP00000512306.1:n.1336+891_1336+892insG
ENST00000695983.1:c.1336+891_1336+892insG	ENSP00000512308.1:n.1336+891_1336+892insG
ENST00000695984.1:c.244+17967_244+17968insG	ENSP00000512309.1:n.244+17967_244+17968insG
ENST00000695986.1:c.*987+891_*987+892insG	ENSP00000512311.1:n.*987+891_*987+892insG
ENST00000695987.1:c.1147+891_1147+892insG	ENSP00000512312.1:n.1147+891_1147+892insG
ENST00000696018.1:n.1420+891_1420+892insG
ENST00000696019.1:n.1420+891_1420+892insG
ENST00000696020.1:n.1420+891_1420+892insG
ENST00000696021.1:n.1399+891_1399+892insG
ENST00000696022.1:n.1424+887_1424+888insG
ENST00000696023.1:c.*19+846_*19+847insG	ENSP00000512334.1:n.*19+846_*19+847insG
ENST00000696024.1:n.1420+891_1420+892insG
ENST00000696025.1:n.1420+891_1420+892insG
ENST00000696026.1:c.1336+891_1336+892insG	ENSP00000512335.1:n.1336+891_1336+892insG
ENST00000696027.1:c.1336+891_1336+892insG	ENSP00000512336.1:n.1336+891_1336+892insG
ENST00000696028.1:c.1336+891_1336+892insG	ENSP00000512337.1:n.1336+891_1336+892insG
ENST00000696029.1:c.1336+891_1336+892insG	ENSP00000512338.1:n.1336+891_1336+892insG
ENST00000696030.1:c.1261+891_1261+892insG	ENSP00000512339.1:n.1261+891_1261+892insG
ENST00000696031.1:c.*854+891_*854+892insG	ENSP00000512340.1:n.*854+891_*854+892insG
ENST00000696032.1:c.1336+891_1336+892insG	ENSP00000512341.1:n.1336+891_1336+892insG
ENST00000696033.1:c.1159+1516_1159+1517insG	ENSP00000512342.1:n.1159+1516_1159+1517insG
ENST00000367429.9:c.1336+891_1336+892insG MANE Select	ENSP00000356399.4:n.1336+891_1336+892insG
ENST00000359637.2:c.1144+891_1144+892insG	ENSP00000352658.2:n.1144+891_1144+892insG
ENST00000367429.8:c.1336+891_1336+892insG	ENSP00000356399.4:n.1336+891_1336+892insG
ENST00000466229.5:n.3352+891_3352+892insG
ENST00000630130.2:c.1336+891_1336+892insG	ENSP00000487250.1:n.1336+891_1336+892insG
NM_000186.3:c.1336+891_1336+892insG , LRG_47t1:c.1336+891_1336+892insG	NP_000177.2:n.1336+891_1336+892insG
NM_001014975.2:c.1336+891_1336+892insG	NP_001014975.1:n.1336+891_1336+892insG
XM_017001108.2:c.1336+891_1336+892insG	XP_016856597.1:n.1336+891_1336+892insG
XR_001737134.2:n.1421+891_1421+892insG
NM_000186.4:c.1336+891_1336+892insG MANE Select	NP_000177.2:n.1336+891_1336+892insG
NM_001014975.3:c.1336+891_1336+892insG	NP_001014975.1:n.1336+891_1336+892insG