Canonical Allele Identifier: CA1148292590

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713719_196713720delinsTT , CM000663.2:g.196713719_196713720delinsTT	GRCh38
NC_000001.10:g.196682849_196682850delinsTT , CM000663.1:g.196682849_196682850delinsTT	GRCh37
NC_000001.9:g.194949472_194949473delinsTT	NCBI36
NG_007259.1:g.66709_66710delinsTT , LRG_47:g.66709_66710delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.1603-16_1603-15delinsTT
ENST00000695969.1:c.1337-16_1337-15delinsTT	ENSP00000512296.1:n.1337-16_1337-15delins...
ENST00000695970.1:c.1337-16_1337-15delinsTT	ENSP00000512297.1:n.1337-16_1337-15delins...
ENST00000695971.1:c.1316-16_1316-15delinsTT	ENSP00000512298.1:n.1316-16_1316-15delins...
ENST00000695972.1:c.1337-16_1337-15delinsTT	ENSP00000512299.1:n.1337-16_1337-15delins...
ENST00000695973.1:c.1337-16_1337-15delinsTT	ENSP00000512300.1:n.1337-16_1337-15delins...
ENST00000695974.1:c.1337-16_1337-15delinsTT	ENSP00000512301.1:n.1337-16_1337-15delins...
ENST00000695975.1:c.1337-16_1337-15delinsTT	ENSP00000512302.1:n.1337-16_1337-15delins...
ENST00000695976.1:c.1148-16_1148-15delinsTT	ENSP00000512303.1:n.1148-16_1148-15delins...
ENST00000695981.1:c.1337-16_1337-15delinsTT	ENSP00000512306.1:n.1337-16_1337-15delins...
ENST00000695983.1:c.1337-16_1337-15delinsTT	ENSP00000512308.1:n.1337-16_1337-15delins...
ENST00000695984.1:c.245-14627_245-14626delinsTT	ENSP00000512309.1:n.245-14627_245-14626de...
ENST00000695986.1:c.*988-16_*988-15delinsTT	ENSP00000512311.1:n.*988-16_*988-15delins...
ENST00000696024.1:n.1421-16_1421-15delinsTT
ENST00000696025.1:n.1421-16_1421-15delinsTT
ENST00000696026.1:c.1337-16_1337-15delinsTT	ENSP00000512335.1:n.1337-16_1337-15delins...
ENST00000696027.1:c.1337-16_1337-15delinsTT	ENSP00000512336.1:n.1337-16_1337-15delins...
ENST00000696028.1:c.1337-16_1337-15delinsTT	ENSP00000512337.1:n.1337-16_1337-15delins...
ENST00000696029.1:c.1337-16_1337-15delinsTT	ENSP00000512338.1:n.1337-16_1337-15delins...
ENST00000696031.1:c.*855-16_*855-15delinsTT	ENSP00000512340.1:n.*855-16_*855-15delins...
ENST00000696032.1:c.1337-16_1337-15delinsTT	ENSP00000512341.1:n.1337-16_1337-15delins...
ENST00000696033.1:c.1159+24105_1159+24106delinsTT	ENSP00000512342.1:n.1159+24105_1159+24106...
ENST00000367429.9:c.1337-16_1337-15delinsTT MANE Select	ENSP00000356399.4:n.1337-16_1337-15delins...
ENST00000367429.8:c.1337-16_1337-15delinsTT	ENSP00000356399.4:n.1337-16_1337-15delins...
ENST00000466229.5:n.3353-16_3353-15delinsTT
NM_000186.3:c.1337-16_1337-15delinsTT , LRG_47t1:c.1337-16_1337-15delinsTT	NP_000177.2:n.1337-16_1337-15delinsTT
XR_001737134.2:n.1422-16_1422-15delinsTT
NM_000186.4:c.1337-16_1337-15delinsTT MANE Select	NP_000177.2:n.1337-16_1337-15delinsTT