Canonical Allele Identifier: CA343987728
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747191A>T , CM000663.2:g.196747191A>T GRCh38
NC_000001.10:g.196716321A>T , CM000663.1:g.196716321A>T GRCh37
NC_000001.9:g.194982944A>T NCBI36
NG_007259.1:g.100181A>T , LRG_47:g.100181A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4602A>T
ENST00000695970.1:c.3400A>T ENSP00000512297.1:p.Arg1134Ter
ENST00000695971.1:c.3553A>T ENSP00000512298.1:p.Arg1185Ter
ENST00000695972.1:c.*651A>T ENSP00000512299.1:n.*651A>T
ENST00000695973.1:c.*1938A>T ENSP00000512300.1:n.*1938A>T
ENST00000695974.1:c.3397A>T ENSP00000512301.1:p.Arg1133Ter
ENST00000695975.1:c.*1701A>T ENSP00000512302.1:n.*1701A>T
ENST00000695976.1:c.3385A>T ENSP00000512303.1:p.Arg1129Ter
ENST00000695981.1:c.3574A>T ENSP00000512306.1:p.Arg1192Ter
ENST00000695984.1:c.1582A>T ENSP00000512309.1:p.Arg528Ter
ENST00000695986.1:c.*3225A>T ENSP00000512311.1:n.*3225A>T
ENST00000695990.1:n.608A>T
ENST00000696026.1:c.*1856A>T ENSP00000512335.1:n.*1856A>T
ENST00000696027.1:c.3568A>T ENSP00000512336.1:p.Arg1190Ter
ENST00000696028.1:c.3502A>T ENSP00000512337.1:p.Arg1168Ter
ENST00000696029.1:c.3568A>T ENSP00000512338.1:p.Arg1190Ter
ENST00000696031.1:c.*3092A>T ENSP00000512340.1:n.*3092A>T
ENST00000696032.1:c.3574A>T ENSP00000512341.1:p.Arg1192Ter
ENST00000696033.1:c.1160-32606A>T ENSP00000512342.1:n.1160-32606A>T
ENST00000367429.9:c.3574A>T MANE Select ENSP00000356399.4:p.Arg1192Ter
ENST00000367429.8:c.3574A>T ENSP00000356399.4:p.Arg1192Ter
ENST00000466229.5:n.6672A>T
NM_000186.3:c.3574A>T , LRG_47t1:c.3574A>T NP_000177.2:p.Arg1192Ter
XR_001737134.2:n.3760A>T
NM_000186.4:c.3574A>T MANE Select NP_000177.2:p.Arg1192Ter