Canonical Allele Identifier: CA1217757537

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196723433_196723434delinsAG , CM000663.2:g.196723433_196723434delinsAG	GRCh38
NC_000001.10:g.196692563_196692564delinsAG , CM000663.1:g.196692563_196692564delinsAG	GRCh37
NC_000001.9:g.194959186_194959187delinsAG	NCBI36
NG_007259.1:g.76423_76424delinsAG , LRG_47:g.76423_76424delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1963-1688_1963-1687delinsAG
ENST00000695969.1:c.1697-1688_1697-1687delinsAG	ENSP00000512296.1:n.1697-1688_1697-1687delinsAG
ENST00000695970.1:c.1697-1688_1697-1687delinsAG	ENSP00000512297.1:n.1697-1688_1697-1687delinsAG
ENST00000695971.1:c.1676-1688_1676-1687delinsAG	ENSP00000512298.1:n.1676-1688_1676-1687delinsAG
ENST00000695972.1:c.1697-1688_1697-1687delinsAG	ENSP00000512299.1:n.1697-1688_1697-1687delinsAG
ENST00000695973.1:c.*61-1688_*61-1687delinsAG	ENSP00000512300.1:n.*61-1688_*61-1687delinsAG
ENST00000695974.1:c.1697-3037_1697-3036delinsAG	ENSP00000512301.1:n.1697-3037_1697-3036delinsAG
ENST00000695975.1:c.1697-1688_1697-1687delinsAG	ENSP00000512302.1:n.1697-1688_1697-1687delinsAG
ENST00000695976.1:c.1508-1688_1508-1687delinsAG	ENSP00000512303.1:n.1508-1688_1508-1687delinsAG
ENST00000695981.1:c.1697-1688_1697-1687delinsAG	ENSP00000512306.1:n.1697-1688_1697-1687delinsAG
ENST00000695983.1:c.1697-1688_1697-1687delinsAG	ENSP00000512308.1:n.1697-1688_1697-1687delinsAG
ENST00000695984.1:c.245-4913_245-4912delinsAG	ENSP00000512309.1:n.245-4913_245-4912delinsAG
ENST00000695986.1:c.*1348-1688_*1348-1687delinsAG	ENSP00000512311.1:n.*1348-1688_*1348-1687delinsAG
ENST00000696025.1:n.1781-1688_1781-1687delinsAG
ENST00000696026.1:c.1701-1694_1701-1693delinsAG	ENSP00000512335.1:n.1701-1694_1701-1693delinsAG
ENST00000696027.1:c.1697-1688_1697-1687delinsAG	ENSP00000512336.1:n.1697-1688_1697-1687delinsAG
ENST00000696028.1:c.1697-1688_1697-1687delinsAG	ENSP00000512337.1:n.1697-1688_1697-1687delinsAG
ENST00000696029.1:c.1697-1688_1697-1687delinsAG	ENSP00000512338.1:n.1697-1688_1697-1687delinsAG
ENST00000696031.1:c.*1215-1688_*1215-1687delinsAG	ENSP00000512340.1:n.*1215-1688_*1215-1687delinsAG
ENST00000696032.1:c.1697-1688_1697-1687delinsAG	ENSP00000512341.1:n.1697-1688_1697-1687delinsAG
ENST00000696033.1:c.1159+33819_1159+33820delinsAG	ENSP00000512342.1:n.1159+33819_1159+33820delinsAG
ENST00000367429.9:c.1697-1688_1697-1687delinsAG MANE Select	ENSP00000356399.4:n.1697-1688_1697-1687delinsAG
ENST00000367429.8:c.1697-1688_1697-1687delinsAG	ENSP00000356399.4:n.1697-1688_1697-1687delinsAG
ENST00000466229.5:n.3713-1688_3713-1687delinsAG
NM_000186.3:c.1697-1688_1697-1687delinsAG , LRG_47t1:c.1697-1688_1697-1687delinsAG	NP_000177.2:n.1697-1688_1697-1687delinsAG
XR_001737134.2:n.1883-1688_1883-1687delinsAG
NM_000186.4:c.1697-1688_1697-1687delinsAG MANE Select	NP_000177.2:n.1697-1688_1697-1687delinsAG