Canonical Allele Identifier: CA343987482
Gene: CFH HGNC NCBI

Linked Data

COSMIC: COSM293056

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747171C>A , CM000663.2:g.196747171C>A GRCh38
NC_000001.10:g.196716301C>A , CM000663.1:g.196716301C>A GRCh37
NC_000001.9:g.194982924C>A NCBI36
NG_007259.1:g.100161C>A , LRG_47:g.100161C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4582C>A
ENST00000695970.1:c.3380C>A ENSP00000512297.1:p.Ala1127Asp
ENST00000695971.1:c.3533C>A ENSP00000512298.1:p.Ala1178Asp
ENST00000695972.1:c.*631C>A ENSP00000512299.1:n.*631C>A
ENST00000695973.1:c.*1918C>A ENSP00000512300.1:n.*1918C>A
ENST00000695974.1:c.3377C>A ENSP00000512301.1:p.Ala1126Asp
ENST00000695975.1:c.*1681C>A ENSP00000512302.1:n.*1681C>A
ENST00000695976.1:c.3365C>A ENSP00000512303.1:p.Ala1122Asp
ENST00000695981.1:c.3554C>A ENSP00000512306.1:p.Ala1185Asp
ENST00000695984.1:c.1562C>A ENSP00000512309.1:p.Ala521Asp
ENST00000695986.1:c.*3205C>A ENSP00000512311.1:n.*3205C>A
ENST00000695990.1:n.588C>A
ENST00000696026.1:c.*1836C>A ENSP00000512335.1:n.*1836C>A
ENST00000696027.1:c.3548C>A ENSP00000512336.1:p.Ala1183Asp
ENST00000696028.1:c.3482C>A ENSP00000512337.1:p.Ala1161Asp
ENST00000696029.1:c.3548C>A ENSP00000512338.1:p.Ala1183Asp
ENST00000696031.1:c.*3072C>A ENSP00000512340.1:n.*3072C>A
ENST00000696032.1:c.3554C>A ENSP00000512341.1:p.Ala1185Asp
ENST00000696033.1:c.1160-32626C>A ENSP00000512342.1:n.1160-32626C>A
ENST00000367429.9:c.3554C>A MANE Select ENSP00000356399.4:p.Ala1185Asp
ENST00000367429.8:c.3554C>A ENSP00000356399.4:p.Ala1185Asp
ENST00000466229.5:n.6652C>A
NM_000186.3:c.3554C>A , LRG_47t1:c.3554C>A NP_000177.2:p.Ala1185Asp
XR_001737134.2:n.3740C>A
NM_000186.4:c.3554C>A MANE Select NP_000177.2:p.Ala1185Asp