Canonical Allele Identifier: CA1010866409

Gene: CFH

Linked Data

• dbSNP Id: rs1667986544
• gnomAD v3: 1-196690450-GGGCATTAGTCAAGAATACA-G
• gnomAD v4: 1-196690450-GGGCATTAGTCAAGAATACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690452_196690470del , CM000663.2:g.196690452_196690470del	GRCh38
NC_000001.10:g.196659582_196659600del , CM000663.1:g.196659582_196659600del	GRCh37
NC_000001.9:g.194926205_194926223del	NCBI36
NG_007259.1:g.43442_43460del , LRG_47:g.43442_43460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1144+213_1144+231del	ENSP00000352658.2:n.1144+213_1144+231del
ENST00000470918.2:n.1602+213_1602+231del
ENST00000695968.1:c.1153+213_1153+231del	ENSP00000512295.1:n.1153+213_1153+231del
ENST00000695969.1:c.1336+213_1336+231del	ENSP00000512296.1:n.1336+213_1336+231del
ENST00000695970.1:c.1336+213_1336+231del	ENSP00000512297.1:n.1336+213_1336+231del
ENST00000695971.1:c.1315+213_1315+231del	ENSP00000512298.1:n.1315+213_1315+231del
ENST00000695972.1:c.1336+213_1336+231del	ENSP00000512299.1:n.1336+213_1336+231del
ENST00000695973.1:c.1336+213_1336+231del	ENSP00000512300.1:n.1336+213_1336+231del
ENST00000695974.1:c.1336+213_1336+231del	ENSP00000512301.1:n.1336+213_1336+231del
ENST00000695975.1:c.1336+213_1336+231del	ENSP00000512302.1:n.1336+213_1336+231del
ENST00000695976.1:c.1147+213_1147+231del	ENSP00000512303.1:n.1147+213_1147+231del
ENST00000695977.1:n.177+213_177+231del
ENST00000695978.1:c.1340+209_1340+227del	ENSP00000512304.1:n.1340+209_1340+227del
ENST00000695979.1:c.1315+213_1315+231del	ENSP00000512305.1:n.1315+213_1315+231del
ENST00000695980.1:n.1456+213_1456+231del
ENST00000695981.1:c.1336+213_1336+231del	ENSP00000512306.1:n.1336+213_1336+231del
ENST00000695983.1:c.1336+213_1336+231del	ENSP00000512308.1:n.1336+213_1336+231del
ENST00000695984.1:c.244+17289_244+17307del	ENSP00000512309.1:n.244+17289_244+17307del
ENST00000695986.1:c.*987+213_*987+231del	ENSP00000512311.1:n.*987+213_*987+231del
ENST00000695987.1:c.1147+213_1147+231del	ENSP00000512312.1:n.1147+213_1147+231del
ENST00000696018.1:n.1420+213_1420+231del
ENST00000696019.1:n.1420+213_1420+231del
ENST00000696020.1:n.1420+213_1420+231del
ENST00000696021.1:n.1399+213_1399+231del
ENST00000696022.1:n.1424+209_1424+227del
ENST00000696023.1:c.*19+168_*19+186del	ENSP00000512334.1:n.*19+168_*19+186del
ENST00000696024.1:n.1420+213_1420+231del
ENST00000696025.1:n.1420+213_1420+231del
ENST00000696026.1:c.1336+213_1336+231del	ENSP00000512335.1:n.1336+213_1336+231del
ENST00000696027.1:c.1336+213_1336+231del	ENSP00000512336.1:n.1336+213_1336+231del
ENST00000696028.1:c.1336+213_1336+231del	ENSP00000512337.1:n.1336+213_1336+231del
ENST00000696029.1:c.1336+213_1336+231del	ENSP00000512338.1:n.1336+213_1336+231del
ENST00000696030.1:c.1261+213_1261+231del	ENSP00000512339.1:n.1261+213_1261+231del
ENST00000696031.1:c.*854+213_*854+231del	ENSP00000512340.1:n.*854+213_*854+231del
ENST00000696032.1:c.1336+213_1336+231del	ENSP00000512341.1:n.1336+213_1336+231del
ENST00000696033.1:c.1159+838_1159+856del	ENSP00000512342.1:n.1159+838_1159+856del
ENST00000367429.9:c.1336+213_1336+231del MANE Select	ENSP00000356399.4:n.1336+213_1336+231del
ENST00000359637.2:c.1144+213_1144+231del	ENSP00000352658.2:n.1144+213_1144+231del
ENST00000367429.8:c.1336+213_1336+231del	ENSP00000356399.4:n.1336+213_1336+231del
ENST00000466229.5:n.3352+213_3352+231del
ENST00000630130.2:c.1336+213_1336+231del	ENSP00000487250.1:n.1336+213_1336+231del
NM_000186.3:c.1336+213_1336+231del , LRG_47t1:c.1336+213_1336+231del	NP_000177.2:n.1336+213_1336+231del
NM_001014975.2:c.1336+213_1336+231del	NP_001014975.1:n.1336+213_1336+231del
XM_017001108.2:c.1336+213_1336+231del	XP_016856597.1:n.1336+213_1336+231del
XR_001737134.2:n.1421+213_1421+231del
NM_000186.4:c.1336+213_1336+231del MANE Select	NP_000177.2:n.1336+213_1336+231del
NM_001014975.3:c.1336+213_1336+231del	NP_001014975.1:n.1336+213_1336+231del