Canonical Allele Identifier: CA1217743339

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690212_196690215delinsTCTC , CM000663.2:g.196690212_196690215delinsTCTC	GRCh38
NC_000001.10:g.196659342_196659345delinsTCTC , CM000663.1:g.196659342_196659345delinsTCTC	GRCh37
NC_000001.9:g.194925965_194925968delinsTCTC	NCBI36
NG_007259.1:g.43202_43205delinsTCTC , LRG_47:g.43202_43205delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1117_1120delinsTCTC	ENSP00000352658.2:p.Ser373=
ENST00000470918.2:n.1575_1578delinsTCTC
ENST00000695968.1:c.1126_1129delinsTCTC	ENSP00000512295.1:p.Ser376=
ENST00000695969.1:c.1309_1312delinsTCTC	ENSP00000512296.1:p.Ser437=
ENST00000695970.1:c.1309_1312delinsTCTC	ENSP00000512297.1:p.Ser437=
ENST00000695971.1:c.1288_1291delinsTCTC	ENSP00000512298.1:p.Ser430=
ENST00000695972.1:c.1309_1312delinsTCTC	ENSP00000512299.1:p.Ser437=
ENST00000695973.1:c.1309_1312delinsTCTC	ENSP00000512300.1:p.Ser437=
ENST00000695974.1:c.1309_1312delinsTCTC	ENSP00000512301.1:p.Ser437=
ENST00000695975.1:c.1309_1312delinsTCTC	ENSP00000512302.1:p.Ser437=
ENST00000695976.1:c.1120_1123delinsTCTC	ENSP00000512303.1:p.Ser374=
ENST00000695977.1:n.150_153delinsTCTC
ENST00000695978.1:c.1309_1312delinsTCTC	ENSP00000512304.1:p.Ser437=
ENST00000695979.1:c.1288_1291delinsTCTC	ENSP00000512305.1:p.Ser430=
ENST00000695980.1:n.1429_1432delinsTCTC
ENST00000695981.1:c.1309_1312delinsTCTC	ENSP00000512306.1:p.Ser437=
ENST00000695983.1:c.1309_1312delinsTCTC	ENSP00000512308.1:p.Ser437=
ENST00000695984.1:c.244+17049_244+17052delinsTCTC	ENSP00000512309.1:n.244+17049_244+17052delinsTCTC
ENST00000695986.1:c.*960_*963delinsTCTC	ENSP00000512311.1:n.*960_*963delinsTCTC
ENST00000695987.1:c.1120_1123delinsTCTC	ENSP00000512312.1:p.Ser374=
ENST00000696018.1:n.1393_1396delinsTCTC
ENST00000696019.1:n.1393_1396delinsTCTC
ENST00000696020.1:n.1393_1396delinsTCTC
ENST00000696021.1:n.1372_1375delinsTCTC
ENST00000696022.1:n.1393_1396delinsTCTC
ENST00000696023.1:c.1309_1312delinsTCTC	ENSP00000512334.1:p.Ser437=
ENST00000696024.1:n.1393_1396delinsTCTC
ENST00000696025.1:n.1393_1396delinsTCTC
ENST00000696026.1:c.1309_1312delinsTCTC	ENSP00000512335.1:p.Ser437=
ENST00000696027.1:c.1309_1312delinsTCTC	ENSP00000512336.1:p.Ser437=
ENST00000696028.1:c.1309_1312delinsTCTC	ENSP00000512337.1:p.Ser437=
ENST00000696029.1:c.1309_1312delinsTCTC	ENSP00000512338.1:p.Ser437=
ENST00000696030.1:c.1234_1237delinsTCTC	ENSP00000512339.1:p.Ser412=
ENST00000696031.1:c.*827_*830delinsTCTC	ENSP00000512340.1:n.*827_*830delinsTCTC
ENST00000696032.1:c.1309_1312delinsTCTC	ENSP00000512341.1:p.Ser437=
ENST00000696033.1:c.1159+598_1159+601delinsTCTC	ENSP00000512342.1:n.1159+598_1159+601delinsTCTC
ENST00000367429.9:c.1309_1312delinsTCTC MANE Select	ENSP00000356399.4:p.Ser437=
ENST00000359637.2:c.1117_1120delinsTCTC	ENSP00000352658.2:p.Ser373=
ENST00000367429.8:c.1309_1312delinsTCTC	ENSP00000356399.4:p.Ser437=
ENST00000466229.5:n.3325_3328delinsTCTC
ENST00000630130.2:c.1309_1312delinsTCTC	ENSP00000487250.1:p.Ser437=
NM_000186.3:c.1309_1312delinsTCTC , LRG_47t1:c.1309_1312delinsTCTC	NP_000177.2:p.Ser437=
NM_001014975.2:c.1309_1312delinsTCTC	NP_001014975.1:p.Ser437=
XM_017001108.2:c.1309_1312delinsTCTC	XP_016856597.1:p.Ser437=
XR_001737134.2:n.1394_1397delinsTCTC
NM_000186.4:c.1309_1312delinsTCTC MANE Select	NP_000177.2:p.Ser437=
NM_001014975.3:c.1309_1312delinsTCTC	NP_001014975.1:p.Ser437=