Canonical Allele Identifier: CA1217770760
Gene: CFH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747179A= , CM000663.2:g.196747179A= GRCh38
NC_000001.10:g.196716309A= , CM000663.1:g.196716309A= GRCh37
NC_000001.9:g.194982932A= NCBI36
NG_007259.1:g.100169A= , LRG_47:g.100169A=

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4590A=
ENST00000695970.1:c.3388A= ENSP00000512297.1:p.Lys1130=
ENST00000695971.1:c.3541A= ENSP00000512298.1:p.Lys1181=
ENST00000695972.1:c.*639A= ENSP00000512299.1:n.*639A=
ENST00000695973.1:c.*1926A= ENSP00000512300.1:n.*1926A=
ENST00000695974.1:c.3385A= ENSP00000512301.1:p.Lys1129=
ENST00000695975.1:c.*1689A= ENSP00000512302.1:n.*1689A=
ENST00000695976.1:c.3373A= ENSP00000512303.1:p.Lys1125=
ENST00000695981.1:c.3562A= ENSP00000512306.1:p.Lys1188=
ENST00000695984.1:c.1570A= ENSP00000512309.1:p.Lys524=
ENST00000695986.1:c.*3213A= ENSP00000512311.1:n.*3213A=
ENST00000695990.1:n.596A=
ENST00000696026.1:c.*1844A= ENSP00000512335.1:n.*1844A=
ENST00000696027.1:c.3556A= ENSP00000512336.1:p.Lys1186=
ENST00000696028.1:c.3490A= ENSP00000512337.1:p.Lys1164=
ENST00000696029.1:c.3556A= ENSP00000512338.1:p.Lys1186=
ENST00000696031.1:c.*3080A= ENSP00000512340.1:n.*3080A=
ENST00000696032.1:c.3562A= ENSP00000512341.1:p.Lys1188=
ENST00000696033.1:c.1160-32618A= ENSP00000512342.1:n.1160-32618A=
ENST00000367429.9:c.3562A= MANE Select ENSP00000356399.4:p.Lys1188=
ENST00000367429.8:c.3562A= ENSP00000356399.4:p.Lys1188=
ENST00000466229.5:n.6660A=
NM_000186.3:c.3562A= , LRG_47t1:c.3562A= NP_000177.2:p.Lys1188=
XR_001737134.2:n.3748A=
NM_000186.4:c.3562A= MANE Select NP_000177.2:p.Lys1188=