Canonical Allele Identifier: CA343981657
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196713768A>T , CM000663.2:g.196713768A>T GRCh38
NC_000001.10:g.196682898A>T , CM000663.1:g.196682898A>T GRCh37
NC_000001.9:g.194949521A>T NCBI36
NG_007259.1:g.66758A>T , LRG_47:g.66758A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.1636A>T
ENST00000695969.1:c.1370A>T ENSP00000512296.1:p.Asn457Ile
ENST00000695970.1:c.1370A>T ENSP00000512297.1:p.Asn457Ile
ENST00000695971.1:c.1349A>T ENSP00000512298.1:p.Asn450Ile
ENST00000695972.1:c.1370A>T ENSP00000512299.1:p.Asn457Ile
ENST00000695973.1:c.1370A>T ENSP00000512300.1:p.Asn457Ile
ENST00000695974.1:c.1370A>T ENSP00000512301.1:p.Asn457Ile
ENST00000695975.1:c.1370A>T ENSP00000512302.1:p.Asn457Ile
ENST00000695976.1:c.1181A>T ENSP00000512303.1:p.Asn394Ile
ENST00000695981.1:c.1370A>T ENSP00000512306.1:p.Asn457Ile
ENST00000695983.1:c.1370A>T ENSP00000512308.1:p.Asn457Ile
ENST00000695984.1:c.245-14578A>T ENSP00000512309.1:n.245-14578A>T
ENST00000695986.1:c.*1021A>T ENSP00000512311.1:n.*1021A>T
ENST00000696024.1:n.1454A>T
ENST00000696025.1:n.1454A>T
ENST00000696026.1:c.1370A>T ENSP00000512335.1:p.Asn457Ile
ENST00000696027.1:c.1370A>T ENSP00000512336.1:p.Asn457Ile
ENST00000696028.1:c.1370A>T ENSP00000512337.1:p.Asn457Ile
ENST00000696029.1:c.1370A>T ENSP00000512338.1:p.Asn457Ile
ENST00000696031.1:c.*888A>T ENSP00000512340.1:n.*888A>T
ENST00000696032.1:c.1370A>T ENSP00000512341.1:p.Asn457Ile
ENST00000696033.1:c.1159+24154A>T ENSP00000512342.1:n.1159+24154A>T
ENST00000367429.9:c.1370A>T MANE Select ENSP00000356399.4:p.Asn457Ile
ENST00000367429.8:c.1370A>T ENSP00000356399.4:p.Asn457Ile
ENST00000466229.5:n.3386A>T
NM_000186.3:c.1370A>T , LRG_47t1:c.1370A>T NP_000177.2:p.Asn457Ile
XR_001737134.2:n.1455A>T
NM_000186.4:c.1370A>T MANE Select NP_000177.2:p.Asn457Ile