Canonical Allele Identifier: CA343987646
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747186A>C , CM000663.2:g.196747186A>C GRCh38
NC_000001.10:g.196716316A>C , CM000663.1:g.196716316A>C GRCh37
NC_000001.9:g.194982939A>C NCBI36
NG_007259.1:g.100176A>C , LRG_47:g.100176A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4597A>C
ENST00000695970.1:c.3395A>C ENSP00000512297.1:p.Tyr1132Ser
ENST00000695971.1:c.3548A>C ENSP00000512298.1:p.Tyr1183Ser
ENST00000695972.1:c.*646A>C ENSP00000512299.1:n.*646A>C
ENST00000695973.1:c.*1933A>C ENSP00000512300.1:n.*1933A>C
ENST00000695974.1:c.3392A>C ENSP00000512301.1:p.Tyr1131Ser
ENST00000695975.1:c.*1696A>C ENSP00000512302.1:n.*1696A>C
ENST00000695976.1:c.3380A>C ENSP00000512303.1:p.Tyr1127Ser
ENST00000695981.1:c.3569A>C ENSP00000512306.1:p.Tyr1190Ser
ENST00000695984.1:c.1577A>C ENSP00000512309.1:p.Tyr526Ser
ENST00000695986.1:c.*3220A>C ENSP00000512311.1:n.*3220A>C
ENST00000695990.1:n.603A>C
ENST00000696026.1:c.*1851A>C ENSP00000512335.1:n.*1851A>C
ENST00000696027.1:c.3563A>C ENSP00000512336.1:p.Tyr1188Ser
ENST00000696028.1:c.3497A>C ENSP00000512337.1:p.Tyr1166Ser
ENST00000696029.1:c.3563A>C ENSP00000512338.1:p.Tyr1188Ser
ENST00000696031.1:c.*3087A>C ENSP00000512340.1:n.*3087A>C
ENST00000696032.1:c.3569A>C ENSP00000512341.1:p.Tyr1190Ser
ENST00000696033.1:c.1160-32611A>C ENSP00000512342.1:n.1160-32611A>C
ENST00000367429.9:c.3569A>C MANE Select ENSP00000356399.4:p.Tyr1190Ser
ENST00000367429.8:c.3569A>C ENSP00000356399.4:p.Tyr1190Ser
ENST00000466229.5:n.6667A>C
NM_000186.3:c.3569A>C , LRG_47t1:c.3569A>C NP_000177.2:p.Tyr1190Ser
XR_001737134.2:n.3755A>C
NM_000186.4:c.3569A>C MANE Select NP_000177.2:p.Tyr1190Ser