Canonical Allele Identifier: CA343987427
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747165G>C , CM000663.2:g.196747165G>C GRCh38
NC_000001.10:g.196716295G>C , CM000663.1:g.196716295G>C GRCh37
NC_000001.9:g.194982918G>C NCBI36
NG_007259.1:g.100155G>C , LRG_47:g.100155G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4576G>C
ENST00000695970.1:c.3374G>C ENSP00000512297.1:p.Trp1125Ser
ENST00000695971.1:c.3527G>C ENSP00000512298.1:p.Trp1176Ser
ENST00000695972.1:c.*625G>C ENSP00000512299.1:n.*625G>C
ENST00000695973.1:c.*1912G>C ENSP00000512300.1:n.*1912G>C
ENST00000695974.1:c.3371G>C ENSP00000512301.1:p.Trp1124Ser
ENST00000695975.1:c.*1675G>C ENSP00000512302.1:n.*1675G>C
ENST00000695976.1:c.3359G>C ENSP00000512303.1:p.Trp1120Ser
ENST00000695981.1:c.3548G>C ENSP00000512306.1:p.Trp1183Ser
ENST00000695984.1:c.1556G>C ENSP00000512309.1:p.Trp519Ser
ENST00000695986.1:c.*3199G>C ENSP00000512311.1:n.*3199G>C
ENST00000695990.1:n.582G>C
ENST00000696026.1:c.*1830G>C ENSP00000512335.1:n.*1830G>C
ENST00000696027.1:c.3542G>C ENSP00000512336.1:p.Trp1181Ser
ENST00000696028.1:c.3476G>C ENSP00000512337.1:p.Trp1159Ser
ENST00000696029.1:c.3542G>C ENSP00000512338.1:p.Trp1181Ser
ENST00000696031.1:c.*3066G>C ENSP00000512340.1:n.*3066G>C
ENST00000696032.1:c.3548G>C ENSP00000512341.1:p.Trp1183Ser
ENST00000696033.1:c.1160-32632G>C ENSP00000512342.1:n.1160-32632G>C
ENST00000367429.9:c.3548G>C MANE Select ENSP00000356399.4:p.Trp1183Ser
ENST00000367429.8:c.3548G>C ENSP00000356399.4:p.Trp1183Ser
ENST00000466229.5:n.6646G>C
NM_000186.3:c.3548G>C , LRG_47t1:c.3548G>C NP_000177.2:p.Trp1183Ser
XR_001737134.2:n.3734G>C
NM_000186.4:c.3548G>C MANE Select NP_000177.2:p.Trp1183Ser