Canonical Allele Identifier: CA343987492
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4582C>T
ENST00000695970.1:c.3380C>T ENSP00000512297.1:p.Ala1127Val
ENST00000695971.1:c.3533C>T ENSP00000512298.1:p.Ala1178Val
ENST00000695972.1:c.*631C>T ENSP00000512299.1:n.*631C>T
ENST00000695973.1:c.*1918C>T ENSP00000512300.1:n.*1918C>T
ENST00000695974.1:c.3377C>T ENSP00000512301.1:p.Ala1126Val
ENST00000695975.1:c.*1681C>T ENSP00000512302.1:n.*1681C>T
ENST00000695976.1:c.3365C>T ENSP00000512303.1:p.Ala1122Val
ENST00000695981.1:c.3554C>T ENSP00000512306.1:p.Ala1185Val
ENST00000695984.1:c.1562C>T ENSP00000512309.1:p.Ala521Val
ENST00000695986.1:c.*3205C>T ENSP00000512311.1:n.*3205C>T
ENST00000695990.1:n.588C>T
ENST00000696026.1:c.*1836C>T ENSP00000512335.1:n.*1836C>T
ENST00000696027.1:c.3548C>T ENSP00000512336.1:p.Ala1183Val
ENST00000696028.1:c.3482C>T ENSP00000512337.1:p.Ala1161Val
ENST00000696029.1:c.3548C>T ENSP00000512338.1:p.Ala1183Val
ENST00000696031.1:c.*3072C>T ENSP00000512340.1:n.*3072C>T
ENST00000696032.1:c.3554C>T ENSP00000512341.1:p.Ala1185Val
ENST00000696033.1:c.1160-32626C>T ENSP00000512342.1:n.1160-32626C>T
ENST00000367429.9:c.3554C>T MANE Select ENSP00000356399.4:p.Ala1185Val
ENST00000367429.8:c.3554C>T ENSP00000356399.4:p.Ala1185Val
ENST00000466229.5:n.6652C>T
NM_000186.3:c.3554C>T , LRG_47t1:c.3554C>T NP_000177.2:p.Ala1185Val
XR_001737134.2:n.3740C>T
NM_000186.4:c.3554C>T MANE Select NP_000177.2:p.Ala1185Val