Canonical Allele Identifier: CA528533968
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs1188159891

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196713950del , CM000663.2:g.196713950del GRCh38
NC_000001.10:g.196683080del , CM000663.1:g.196683080del GRCh37
NC_000001.9:g.194949703del NCBI36
NG_007259.1:g.66940del , LRG_47:g.66940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.1785+33del
ENST00000695969.1:c.1519+33del ENSP00000512296.1:n.1519+33del
ENST00000695970.1:c.1519+33del ENSP00000512297.1:n.1519+33del
ENST00000695971.1:c.1498+33del ENSP00000512298.1:n.1498+33del
ENST00000695972.1:c.1519+33del ENSP00000512299.1:n.1519+33del
ENST00000695973.1:c.1519+33del ENSP00000512300.1:n.1519+33del
ENST00000695974.1:c.1519+33del ENSP00000512301.1:n.1519+33del
ENST00000695975.1:c.1519+33del ENSP00000512302.1:n.1519+33del
ENST00000695976.1:c.1330+33del ENSP00000512303.1:n.1330+33del
ENST00000695981.1:c.1519+33del ENSP00000512306.1:n.1519+33del
ENST00000695983.1:c.1519+33del ENSP00000512308.1:n.1519+33del
ENST00000695984.1:c.245-14396del ENSP00000512309.1:n.245-14396del
ENST00000695986.1:c.*1170+33del ENSP00000512311.1:n.*1170+33del
ENST00000696024.1:n.1603+33del
ENST00000696025.1:n.1603+33del
ENST00000696026.1:c.1519+33del ENSP00000512335.1:n.1519+33del
ENST00000696027.1:c.1519+33del ENSP00000512336.1:n.1519+33del
ENST00000696028.1:c.1519+33del ENSP00000512337.1:n.1519+33del
ENST00000696029.1:c.1519+33del ENSP00000512338.1:n.1519+33del
ENST00000696031.1:c.*1037+33del ENSP00000512340.1:n.*1037+33del
ENST00000696032.1:c.1519+33del ENSP00000512341.1:n.1519+33del
ENST00000696033.1:c.1159+24336del ENSP00000512342.1:n.1159+24336del
ENST00000367429.9:c.1519+33del MANE Select ENSP00000356399.4:n.1519+33del
ENST00000367429.8:c.1519+33del ENSP00000356399.4:n.1519+33del
ENST00000466229.5:n.3535+33del
NM_000186.3:c.1519+33del , LRG_47t1:c.1519+33del NP_000177.2:n.1519+33del
XR_001737134.2:n.1604+33del
NM_000186.4:c.1519+33del MANE Select NP_000177.2:n.1519+33del