Canonical Allele Identifier: CA422663542
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716326A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747196A>T , CM000663.2:g.196747196A>T GRCh38
NC_000001.10:g.196716326A>T , CM000663.1:g.196716326A>T GRCh37
NC_000001.9:g.194982949A>T NCBI36
NG_007259.1:g.100186A>T , LRG_47:g.100186A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4607A>T
ENST00000695970.1:c.3405A>T ENSP00000512297.1:p.Thr1135=
ENST00000695971.1:c.3558A>T ENSP00000512298.1:p.Thr1186=
ENST00000695972.1:c.*656A>T ENSP00000512299.1:n.*656A>T
ENST00000695973.1:c.*1943A>T ENSP00000512300.1:n.*1943A>T
ENST00000695974.1:c.3402A>T ENSP00000512301.1:p.Thr1134=
ENST00000695975.1:c.*1706A>T ENSP00000512302.1:n.*1706A>T
ENST00000695976.1:c.3390A>T ENSP00000512303.1:p.Thr1130=
ENST00000695981.1:c.3579A>T ENSP00000512306.1:p.Thr1193=
ENST00000695984.1:c.1587A>T ENSP00000512309.1:p.Thr529=
ENST00000695986.1:c.*3230A>T ENSP00000512311.1:n.*3230A>T
ENST00000695990.1:n.613A>T
ENST00000696026.1:c.*1861A>T ENSP00000512335.1:n.*1861A>T
ENST00000696027.1:c.3573A>T ENSP00000512336.1:p.Thr1191=
ENST00000696028.1:c.3507A>T ENSP00000512337.1:p.Thr1169=
ENST00000696029.1:c.3573A>T ENSP00000512338.1:p.Thr1191=
ENST00000696031.1:c.*3097A>T ENSP00000512340.1:n.*3097A>T
ENST00000696032.1:c.3579A>T ENSP00000512341.1:p.Thr1193=
ENST00000696033.1:c.1160-32601A>T ENSP00000512342.1:n.1160-32601A>T
ENST00000367429.9:c.3579A>T MANE Select ENSP00000356399.4:p.Thr1193=
ENST00000367429.8:c.3579A>T ENSP00000356399.4:p.Thr1193=
ENST00000466229.5:n.6677A>T
NM_000186.3:c.3579A>T , LRG_47t1:c.3579A>T NP_000177.2:p.Thr1193=
XR_001737134.2:n.3765A>T
NM_000186.4:c.3579A>T MANE Select NP_000177.2:p.Thr1193=