Canonical Allele Identifier: CA1217760076

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196726141_196726144delinsTATG , CM000663.2:g.196726141_196726144delinsTATG	GRCh38
NC_000001.10:g.196695271_196695274delinsTATG , CM000663.1:g.196695271_196695274delinsTATG	GRCh37
NC_000001.9:g.194961894_194961897delinsTATG	NCBI36
NG_007259.1:g.79131_79134delinsTATG , LRG_47:g.79131_79134delinsTATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2140-329_2140-326delinsTATG
ENST00000695969.1:c.1874-329_1874-326delinsTATG	ENSP00000512296.1:n.1874-329_1874-326delinsTATG
ENST00000695970.1:c.1874-329_1874-326delinsTATG	ENSP00000512297.1:n.1874-329_1874-326delinsTATG
ENST00000695971.1:c.1853-329_1853-326delinsTATG	ENSP00000512298.1:n.1853-329_1853-326delinsTATG
ENST00000695972.1:c.1874-329_1874-326delinsTATG	ENSP00000512299.1:n.1874-329_1874-326delinsTATG
ENST00000695973.1:c.*238-329_*238-326delinsTATG	ENSP00000512300.1:n.*238-329_*238-326delinsTATG
ENST00000695974.1:c.1697-329_1697-326delinsTATG	ENSP00000512301.1:n.1697-329_1697-326delinsTATG
ENST00000695975.1:c.1874-315_1874-312delinsTATG	ENSP00000512302.1:n.1874-315_1874-312delinsTATG
ENST00000695976.1:c.1685-329_1685-326delinsTATG	ENSP00000512303.1:n.1685-329_1685-326delinsTATG
ENST00000695981.1:c.1874-329_1874-326delinsTATG	ENSP00000512306.1:n.1874-329_1874-326delinsTATG
ENST00000695983.1:c.1874-329_1874-326delinsTATG	ENSP00000512308.1:n.1874-329_1874-326delinsTATG
ENST00000695984.1:c.245-2205_245-2202delinsTATG	ENSP00000512309.1:n.245-2205_245-2202delinsTATG
ENST00000695986.1:c.*1525-329_*1525-326delinsTATG	ENSP00000512311.1:n.*1525-329_*1525-326delinsTATG
ENST00000696025.1:n.1958-329_1958-326delinsTATG
ENST00000696026.1:c.*156-329_*156-326delinsTATG	ENSP00000512335.1:n.*156-329_*156-326delinsTATG
ENST00000696027.1:c.1874-329_1874-326delinsTATG	ENSP00000512336.1:n.1874-329_1874-326delinsTATG
ENST00000696028.1:c.1874-329_1874-326delinsTATG	ENSP00000512337.1:n.1874-329_1874-326delinsTATG
ENST00000696029.1:c.1874-329_1874-326delinsTATG	ENSP00000512338.1:n.1874-329_1874-326delinsTATG
ENST00000696031.1:c.*1392-329_*1392-326delinsTATG	ENSP00000512340.1:n.*1392-329_*1392-326delinsTATG
ENST00000696032.1:c.1874-329_1874-326delinsTATG	ENSP00000512341.1:n.1874-329_1874-326delinsTATG
ENST00000696033.1:c.1159+36527_1159+36530delinsTATG	ENSP00000512342.1:n.1159+36527_1159+36530delinsTATG
ENST00000367429.9:c.1874-329_1874-326delinsTATG MANE Select	ENSP00000356399.4:n.1874-329_1874-326delinsTATG
ENST00000367429.8:c.1874-329_1874-326delinsTATG	ENSP00000356399.4:n.1874-329_1874-326delinsTATG
ENST00000466229.5:n.3890-329_3890-326delinsTATG
NM_000186.3:c.1874-329_1874-326delinsTATG , LRG_47t1:c.1874-329_1874-326delinsTATG	NP_000177.2:n.1874-329_1874-326delinsTATG
XR_001737134.2:n.2060-329_2060-326delinsTATG
NM_000186.4:c.1874-329_1874-326delinsTATG MANE Select	NP_000177.2:n.1874-329_1874-326delinsTATG