Canonical Allele Identifier: CA422663426
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716248T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747118T>C , CM000663.2:g.196747118T>C GRCh38
NC_000001.10:g.196716248T>C , CM000663.1:g.196716248T>C GRCh37
NC_000001.9:g.194982871T>C NCBI36
NG_007259.1:g.100108T>C , LRG_47:g.100108T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4529T>C
ENST00000695970.1:c.3327T>C ENSP00000512297.1:p.Cys1109=
ENST00000695971.1:c.3480T>C ENSP00000512298.1:p.Cys1160=
ENST00000695972.1:c.*578T>C ENSP00000512299.1:n.*578T>C
ENST00000695973.1:c.*1865T>C ENSP00000512300.1:n.*1865T>C
ENST00000695974.1:c.3324T>C ENSP00000512301.1:p.Cys1108=
ENST00000695975.1:c.*1628T>C ENSP00000512302.1:n.*1628T>C
ENST00000695976.1:c.3312T>C ENSP00000512303.1:p.Cys1104=
ENST00000695981.1:c.3501T>C ENSP00000512306.1:p.Cys1167=
ENST00000695984.1:c.1509T>C ENSP00000512309.1:p.Cys503=
ENST00000695986.1:c.*3152T>C ENSP00000512311.1:n.*3152T>C
ENST00000695990.1:n.535T>C
ENST00000696026.1:c.*1783T>C ENSP00000512335.1:n.*1783T>C
ENST00000696027.1:c.3495T>C ENSP00000512336.1:p.Cys1165=
ENST00000696028.1:c.3429T>C ENSP00000512337.1:p.Cys1143=
ENST00000696029.1:c.3495T>C ENSP00000512338.1:p.Cys1165=
ENST00000696031.1:c.*3019T>C ENSP00000512340.1:n.*3019T>C
ENST00000696032.1:c.3501T>C ENSP00000512341.1:p.Cys1167=
ENST00000696033.1:c.1160-32679T>C ENSP00000512342.1:n.1160-32679T>C
ENST00000367429.9:c.3501T>C MANE Select ENSP00000356399.4:p.Cys1167=
ENST00000367429.8:c.3501T>C ENSP00000356399.4:p.Cys1167=
ENST00000466229.5:n.6599T>C
NM_000186.3:c.3501T>C , LRG_47t1:c.3501T>C NP_000177.2:p.Cys1167=
XR_001737134.2:n.3687T>C
NM_000186.4:c.3501T>C MANE Select NP_000177.2:p.Cys1167=