Canonical Allele Identifier: CA343989089
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747267C>T , CM000663.2:g.196747267C>T GRCh38
NC_000001.10:g.196716397C>T , CM000663.1:g.196716397C>T GRCh37
NC_000001.9:g.194983020C>T NCBI36
NG_007259.1:g.100257C>T , LRG_47:g.100257C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4678C>T
ENST00000695970.1:c.3476C>T ENSP00000512297.1:p.Thr1159Ile
ENST00000695971.1:c.3629C>T ENSP00000512298.1:p.Thr1210Ile
ENST00000695972.1:c.*727C>T ENSP00000512299.1:n.*727C>T
ENST00000695973.1:c.*2014C>T ENSP00000512300.1:n.*2014C>T
ENST00000695974.1:c.3473C>T ENSP00000512301.1:p.Thr1158Ile
ENST00000695975.1:c.*1777C>T ENSP00000512302.1:n.*1777C>T
ENST00000695976.1:c.3461C>T ENSP00000512303.1:p.Thr1154Ile
ENST00000695981.1:c.3580+70C>T ENSP00000512306.1:n.3580+70C>T
ENST00000695984.1:c.1658C>T ENSP00000512309.1:p.Thr553Ile
ENST00000695986.1:c.*3301C>T ENSP00000512311.1:n.*3301C>T
ENST00000695990.1:n.684C>T
ENST00000696026.1:c.*1932C>T ENSP00000512335.1:n.*1932C>T
ENST00000696027.1:c.3644C>T ENSP00000512336.1:p.Thr1215Ile
ENST00000696028.1:c.3578C>T ENSP00000512337.1:p.Thr1193Ile
ENST00000696029.1:c.3644C>T ENSP00000512338.1:p.Thr1215Ile
ENST00000696031.1:c.*3168C>T ENSP00000512340.1:n.*3168C>T
ENST00000696032.1:c.3580+70C>T ENSP00000512341.1:n.3580+70C>T
ENST00000696033.1:c.1160-32530C>T ENSP00000512342.1:n.1160-32530C>T
ENST00000367429.9:c.3650C>T MANE Select ENSP00000356399.4:p.Thr1217Ile
ENST00000367429.8:c.3650C>T ENSP00000356399.4:p.Thr1217Ile
ENST00000466229.5:n.6748C>T
NM_000186.3:c.3650C>T , LRG_47t1:c.3650C>T NP_000177.2:p.Thr1217Ile
XR_001737134.2:n.3836C>T
NM_000186.4:c.3650C>T MANE Select NP_000177.2:p.Thr1217Ile