Canonical Allele Identifier: CA1217758374

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196724286_196724287delinsAG , CM000663.2:g.196724286_196724287delinsAG	GRCh38
NC_000001.10:g.196693416_196693417delinsAG , CM000663.1:g.196693416_196693417delinsAG	GRCh37
NC_000001.9:g.194960039_194960040delinsAG	NCBI36
NG_007259.1:g.77276_77277delinsAG , LRG_47:g.77276_77277delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.1963-835_1963-834delinsAG
ENST00000695969.1:c.1697-835_1697-834delinsAG	ENSP00000512296.1:n.1697-835_1697-834delinsAG
ENST00000695970.1:c.1697-835_1697-834delinsAG	ENSP00000512297.1:n.1697-835_1697-834delinsAG
ENST00000695971.1:c.1676-835_1676-834delinsAG	ENSP00000512298.1:n.1676-835_1676-834delinsAG
ENST00000695972.1:c.1697-835_1697-834delinsAG	ENSP00000512299.1:n.1697-835_1697-834delinsAG
ENST00000695973.1:c.*61-835_*61-834delinsAG	ENSP00000512300.1:n.*61-835_*61-834delinsAG
ENST00000695974.1:c.1697-2184_1697-2183delinsAG	ENSP00000512301.1:n.1697-2184_1697-2183delinsAG
ENST00000695975.1:c.1697-835_1697-834delinsAG	ENSP00000512302.1:n.1697-835_1697-834delinsAG
ENST00000695976.1:c.1508-835_1508-834delinsAG	ENSP00000512303.1:n.1508-835_1508-834delinsAG
ENST00000695981.1:c.1697-835_1697-834delinsAG	ENSP00000512306.1:n.1697-835_1697-834delinsAG
ENST00000695983.1:c.1697-835_1697-834delinsAG	ENSP00000512308.1:n.1697-835_1697-834delinsAG
ENST00000695984.1:c.245-4060_245-4059delinsAG	ENSP00000512309.1:n.245-4060_245-4059delinsAG
ENST00000695986.1:c.*1348-835_*1348-834delinsAG	ENSP00000512311.1:n.*1348-835_*1348-834delinsAG
ENST00000696025.1:n.1781-835_1781-834delinsAG
ENST00000696026.1:c.1701-841_1701-840delinsAG	ENSP00000512335.1:n.1701-841_1701-840delinsAG
ENST00000696027.1:c.1697-835_1697-834delinsAG	ENSP00000512336.1:n.1697-835_1697-834delinsAG
ENST00000696028.1:c.1697-835_1697-834delinsAG	ENSP00000512337.1:n.1697-835_1697-834delinsAG
ENST00000696029.1:c.1697-835_1697-834delinsAG	ENSP00000512338.1:n.1697-835_1697-834delinsAG
ENST00000696031.1:c.*1215-835_*1215-834delinsAG	ENSP00000512340.1:n.*1215-835_*1215-834delinsAG
ENST00000696032.1:c.1697-835_1697-834delinsAG	ENSP00000512341.1:n.1697-835_1697-834delinsAG
ENST00000696033.1:c.1159+34672_1159+34673delinsAG	ENSP00000512342.1:n.1159+34672_1159+34673delinsAG
ENST00000367429.9:c.1697-835_1697-834delinsAG MANE Select	ENSP00000356399.4:n.1697-835_1697-834delinsAG
ENST00000367429.8:c.1697-835_1697-834delinsAG	ENSP00000356399.4:n.1697-835_1697-834delinsAG
ENST00000466229.5:n.3713-835_3713-834delinsAG
NM_000186.3:c.1697-835_1697-834delinsAG , LRG_47t1:c.1697-835_1697-834delinsAG	NP_000177.2:n.1697-835_1697-834delinsAG
XR_001737134.2:n.1883-835_1883-834delinsAG
NM_000186.4:c.1697-835_1697-834delinsAG MANE Select	NP_000177.2:n.1697-835_1697-834delinsAG