Canonical Allele Identifier: CA1217743428
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196690401_196690431delinsTATACAAATTTCTTGATAAGTACATAGTAAA , CM000663.2:g.196690401_196690431delinsTATACAAATTTCTTGATAAGTACATAGTAAA GRCh38
NC_000001.10:g.196659531_196659561delinsTATACAAATTTCTTGATAAGTACATAGTAAA , CM000663.1:g.196659531_196659561delinsTATACAAATTTCTTGATAAGTACATAGTAAA GRCh37
NC_000001.9:g.194926154_194926184delinsTATACAAATTTCTTGATAAGTACATAGTAAA NCBI36
NG_007259.1:g.43391_43421delinsTATACAAATTTCTTGATAAGTACATAGTAAA , LRG_47:g.43391_43421delinsTATACAAATTTCTTGATAAGTACATAGTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359637.3:c.1144+162_1144+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000352658.2:n.1144+162_1144+192delinsTATACAAATTTCTTGATA...
ENST00000470918.2:n.1602+162_1602+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000695968.1:c.1153+162_1153+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512295.1:n.1153+162_1153+192delinsTATACAAATTTCTTGATA...
ENST00000695969.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512296.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695970.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512297.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695971.1:c.1315+162_1315+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512298.1:n.1315+162_1315+192delinsTATACAAATTTCTTGATA...
ENST00000695972.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512299.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695973.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512300.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695974.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512301.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695975.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512302.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695976.1:c.1147+162_1147+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512303.1:n.1147+162_1147+192delinsTATACAAATTTCTTGATA...
ENST00000695977.1:n.177+162_177+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000695978.1:c.1340+158_1340+188delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512304.1:n.1340+158_1340+188delinsTATACAAATTTCTTGATA...
ENST00000695979.1:c.1315+162_1315+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512305.1:n.1315+162_1315+192delinsTATACAAATTTCTTGATA...
ENST00000695980.1:n.1456+162_1456+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000695981.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512306.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695983.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512308.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000695984.1:c.244+17238_244+17268delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512309.1:n.244+17238_244+17268delinsTATACAAATTTCTTGA...
ENST00000695986.1:c.*987+162_*987+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512311.1:n.*987+162_*987+192delinsTATACAAATTTCTTGATA...
ENST00000695987.1:c.1147+162_1147+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512312.1:n.1147+162_1147+192delinsTATACAAATTTCTTGATA...
ENST00000696018.1:n.1420+162_1420+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696019.1:n.1420+162_1420+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696020.1:n.1420+162_1420+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696021.1:n.1399+162_1399+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696022.1:n.1424+158_1424+188delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696023.1:c.*19+117_*19+147delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512334.1:n.*19+117_*19+147delinsTATACAAATTTCTTGATAAG...
ENST00000696024.1:n.1420+162_1420+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696025.1:n.1420+162_1420+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000696026.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512335.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000696027.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512336.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000696028.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512337.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000696029.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512338.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000696030.1:c.1261+162_1261+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512339.1:n.1261+162_1261+192delinsTATACAAATTTCTTGATA...
ENST00000696031.1:c.*854+162_*854+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512340.1:n.*854+162_*854+192delinsTATACAAATTTCTTGATA...
ENST00000696032.1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512341.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000696033.1:c.1159+787_1159+817delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000512342.1:n.1159+787_1159+817delinsTATACAAATTTCTTGATA...
ENST00000367429.9:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA MANE Select ENSP00000356399.4:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000359637.2:c.1144+162_1144+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000352658.2:n.1144+162_1144+192delinsTATACAAATTTCTTGATA...
ENST00000367429.8:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000356399.4:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
ENST00000466229.5:n.3352+162_3352+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
ENST00000630130.2:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA ENSP00000487250.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATA...
NM_000186.3:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA , LRG_47t1:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA NP_000177.2:n.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACA...
NM_001014975.2:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA NP_001014975.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATAAGT...
XM_017001108.2:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA XP_016856597.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATAAGT...
XR_001737134.2:n.1421+162_1421+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA
NM_000186.4:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA MANE Select NP_000177.2:n.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACA...
NM_001014975.3:c.1336+162_1336+192delinsTATACAAATTTCTTGATAAGTACATAGTAAA NP_001014975.1:n.1336+162_1336+192delinsTATACAAATTTCTTGATAAGT...