Canonical Allele Identifier: CA343986980
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747119G>T , CM000663.2:g.196747119G>T GRCh38
NC_000001.10:g.196716249G>T , CM000663.1:g.196716249G>T GRCh37
NC_000001.9:g.194982872G>T NCBI36
NG_007259.1:g.100109G>T , LRG_47:g.100109G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4530G>T
ENST00000695970.1:c.3328G>T ENSP00000512297.1:p.Val1110Leu
ENST00000695971.1:c.3481G>T ENSP00000512298.1:p.Val1161Leu
ENST00000695972.1:c.*579G>T ENSP00000512299.1:n.*579G>T
ENST00000695973.1:c.*1866G>T ENSP00000512300.1:n.*1866G>T
ENST00000695974.1:c.3325G>T ENSP00000512301.1:p.Val1109Leu
ENST00000695975.1:c.*1629G>T ENSP00000512302.1:n.*1629G>T
ENST00000695976.1:c.3313G>T ENSP00000512303.1:p.Val1105Leu
ENST00000695981.1:c.3502G>T ENSP00000512306.1:p.Val1168Leu
ENST00000695984.1:c.1510G>T ENSP00000512309.1:p.Val504Leu
ENST00000695986.1:c.*3153G>T ENSP00000512311.1:n.*3153G>T
ENST00000695990.1:n.536G>T
ENST00000696026.1:c.*1784G>T ENSP00000512335.1:n.*1784G>T
ENST00000696027.1:c.3496G>T ENSP00000512336.1:p.Val1166Leu
ENST00000696028.1:c.3430G>T ENSP00000512337.1:p.Val1144Leu
ENST00000696029.1:c.3496G>T ENSP00000512338.1:p.Val1166Leu
ENST00000696031.1:c.*3020G>T ENSP00000512340.1:n.*3020G>T
ENST00000696032.1:c.3502G>T ENSP00000512341.1:p.Val1168Leu
ENST00000696033.1:c.1160-32678G>T ENSP00000512342.1:n.1160-32678G>T
ENST00000367429.9:c.3502G>T MANE Select ENSP00000356399.4:p.Val1168Leu
ENST00000367429.8:c.3502G>T ENSP00000356399.4:p.Val1168Leu
ENST00000466229.5:n.6600G>T
NM_000186.3:c.3502G>T , LRG_47t1:c.3502G>T NP_000177.2:p.Val1168Leu
XR_001737134.2:n.3688G>T
NM_000186.4:c.3502G>T MANE Select NP_000177.2:p.Val1168Leu