Canonical Allele Identifier: CA1217755560

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713916_196713920delinsTAGTA , CM000663.2:g.196713916_196713920delinsTAGTA	GRCh38
NC_000001.10:g.196683046_196683050delinsTAGTA , CM000663.1:g.196683046_196683050delinsTAGTA	GRCh37
NC_000001.9:g.194949669_194949673delinsTAGTA	NCBI36
NG_007259.1:g.66906_66910delinsTAGTA , LRG_47:g.66906_66910delinsTAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1784_1785+3delinsTAGTA
ENST00000695969.1:c.1518_1519+3delinsTAGTA
ENST00000695970.1:c.1518_1519+3delinsTAGTA
ENST00000695971.1:c.1497_1498+3delinsTAGTA
ENST00000695972.1:c.1518_1519+3delinsTAGTA
ENST00000695973.1:c.1518_1519+3delinsTAGTA
ENST00000695974.1:c.1518_1519+3delinsTAGTA
ENST00000695975.1:c.1518_1519+3delinsTAGTA
ENST00000695976.1:c.1329_1330+3delinsTAGTA
ENST00000695981.1:c.1518_1519+3delinsTAGTA
ENST00000695983.1:c.1518_1519+3delinsTAGTA
ENST00000695984.1:c.245-14430_245-14426delinsTAGTA	ENSP00000512309.1:n.245-14430_245-14426delinsTAGTA
ENST00000695986.1:c.*1169_*1170+3delinsTAGTA
ENST00000696024.1:n.1602_1603+3delinsTAGTA
ENST00000696025.1:n.1602_1603+3delinsTAGTA
ENST00000696026.1:c.1518_1519+3delinsTAGTA
ENST00000696027.1:c.1518_1519+3delinsTAGTA
ENST00000696028.1:c.1518_1519+3delinsTAGTA
ENST00000696029.1:c.1518_1519+3delinsTAGTA
ENST00000696031.1:c.*1036_*1037+3delinsTAGTA
ENST00000696032.1:c.1518_1519+3delinsTAGTA
ENST00000696033.1:c.1159+24302_1159+24306delinsTAGTA	ENSP00000512342.1:n.1159+24302_1159+24306delinsTAGTA
ENST00000367429.9:c.1518_1519+3delinsTAGTA
ENST00000367429.8:c.1518_1519+3delinsTAGTA
ENST00000466229.5:n.3534_3535+3delinsTAGTA
NM_000186.3:c.1518_1519+3delinsTAGTA , LRG_47t1:c.1518_1519+3delinsTAGTA
XR_001737134.2:n.1603_1604+3delinsTAGTA
NM_000186.4:c.1518_1519+3delinsTAGTA