Canonical Allele Identifier: CA1217758297

Gene: CFH

Linked Data

• dbSNP Id: rs1669071940

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196724202_196724210del , CM000663.2:g.196724202_196724210del	GRCh38
NC_000001.10:g.196693332_196693340del , CM000663.1:g.196693332_196693340del	GRCh37
NC_000001.9:g.194959955_194959963del	NCBI36
NG_007259.1:g.77192_77200del , LRG_47:g.77192_77200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1963-919_1963-911del
ENST00000695969.1:c.1697-919_1697-911del	ENSP00000512296.1:n.1697-919_1697-911del
ENST00000695970.1:c.1697-919_1697-911del	ENSP00000512297.1:n.1697-919_1697-911del
ENST00000695971.1:c.1676-919_1676-911del	ENSP00000512298.1:n.1676-919_1676-911del
ENST00000695972.1:c.1697-919_1697-911del	ENSP00000512299.1:n.1697-919_1697-911del
ENST00000695973.1:c.*61-919_*61-911del	ENSP00000512300.1:n.*61-919_*61-911del
ENST00000695974.1:c.1697-2268_1697-2260del	ENSP00000512301.1:n.1697-2268_1697-2260del
ENST00000695975.1:c.1697-919_1697-911del	ENSP00000512302.1:n.1697-919_1697-911del
ENST00000695976.1:c.1508-919_1508-911del	ENSP00000512303.1:n.1508-919_1508-911del
ENST00000695981.1:c.1697-919_1697-911del	ENSP00000512306.1:n.1697-919_1697-911del
ENST00000695983.1:c.1697-919_1697-911del	ENSP00000512308.1:n.1697-919_1697-911del
ENST00000695984.1:c.245-4144_245-4136del	ENSP00000512309.1:n.245-4144_245-4136del
ENST00000695986.1:c.*1348-919_*1348-911del	ENSP00000512311.1:n.*1348-919_*1348-911del
ENST00000696025.1:n.1781-919_1781-911del
ENST00000696026.1:c.1701-925_1701-917del	ENSP00000512335.1:n.1701-925_1701-917del
ENST00000696027.1:c.1697-919_1697-911del	ENSP00000512336.1:n.1697-919_1697-911del
ENST00000696028.1:c.1697-919_1697-911del	ENSP00000512337.1:n.1697-919_1697-911del
ENST00000696029.1:c.1697-919_1697-911del	ENSP00000512338.1:n.1697-919_1697-911del
ENST00000696031.1:c.*1215-919_*1215-911del	ENSP00000512340.1:n.*1215-919_*1215-911del
ENST00000696032.1:c.1697-919_1697-911del	ENSP00000512341.1:n.1697-919_1697-911del
ENST00000696033.1:c.1159+34588_1159+34596del	ENSP00000512342.1:n.1159+34588_1159+34596del
ENST00000367429.9:c.1697-919_1697-911del MANE Select	ENSP00000356399.4:n.1697-919_1697-911del
ENST00000367429.8:c.1697-919_1697-911del	ENSP00000356399.4:n.1697-919_1697-911del
ENST00000466229.5:n.3713-919_3713-911del
NM_000186.3:c.1697-919_1697-911del , LRG_47t1:c.1697-919_1697-911del	NP_000177.2:n.1697-919_1697-911del
XR_001737134.2:n.1883-919_1883-911del
NM_000186.4:c.1697-919_1697-911del MANE Select	NP_000177.2:n.1697-919_1697-911del