Canonical Allele Identifier: CA343987390
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747162G>T , CM000663.2:g.196747162G>T GRCh38
NC_000001.10:g.196716292G>T , CM000663.1:g.196716292G>T GRCh37
NC_000001.9:g.194982915G>T NCBI36
NG_007259.1:g.100152G>T , LRG_47:g.100152G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4573G>T
ENST00000695970.1:c.3371G>T ENSP00000512297.1:p.Arg1124Met
ENST00000695971.1:c.3524G>T ENSP00000512298.1:p.Arg1175Met
ENST00000695972.1:c.*622G>T ENSP00000512299.1:n.*622G>T
ENST00000695973.1:c.*1909G>T ENSP00000512300.1:n.*1909G>T
ENST00000695974.1:c.3368G>T ENSP00000512301.1:p.Arg1123Met
ENST00000695975.1:c.*1672G>T ENSP00000512302.1:n.*1672G>T
ENST00000695976.1:c.3356G>T ENSP00000512303.1:p.Arg1119Met
ENST00000695981.1:c.3545G>T ENSP00000512306.1:p.Arg1182Met
ENST00000695984.1:c.1553G>T ENSP00000512309.1:p.Arg518Met
ENST00000695986.1:c.*3196G>T ENSP00000512311.1:n.*3196G>T
ENST00000695990.1:n.579G>T
ENST00000696026.1:c.*1827G>T ENSP00000512335.1:n.*1827G>T
ENST00000696027.1:c.3539G>T ENSP00000512336.1:p.Arg1180Met
ENST00000696028.1:c.3473G>T ENSP00000512337.1:p.Arg1158Met
ENST00000696029.1:c.3539G>T ENSP00000512338.1:p.Arg1180Met
ENST00000696031.1:c.*3063G>T ENSP00000512340.1:n.*3063G>T
ENST00000696032.1:c.3545G>T ENSP00000512341.1:p.Arg1182Met
ENST00000696033.1:c.1160-32635G>T ENSP00000512342.1:n.1160-32635G>T
ENST00000367429.9:c.3545G>T MANE Select ENSP00000356399.4:p.Arg1182Met
ENST00000367429.8:c.3545G>T ENSP00000356399.4:p.Arg1182Met
ENST00000466229.5:n.6643G>T
NM_000186.3:c.3545G>T , LRG_47t1:c.3545G>T NP_000177.2:p.Arg1182Met
XR_001737134.2:n.3731G>T
NM_000186.4:c.3545G>T MANE Select NP_000177.2:p.Arg1182Met