Canonical Allele Identifier: CA1305863
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 1693711
dbSNP Id: rs757426928

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196743478G>A , CM000663.2:g.196743478G>A GRCh38
NC_000001.10:g.196712608G>A , CM000663.1:g.196712608G>A GRCh37
NC_000001.9:g.194979231G>A NCBI36
NG_007259.1:g.96468G>A , LRG_47:g.96468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.4188G>A
ENST00000695970.1:c.2986G>A ENSP00000512297.1:p.Val996Ile
ENST00000695971.1:c.3139G>A ENSP00000512298.1:p.Val1047Ile
ENST00000695972.1:c.*237G>A ENSP00000512299.1:n.*237G>A
ENST00000695973.1:c.*1524G>A ENSP00000512300.1:n.*1524G>A
ENST00000695974.1:c.2983G>A ENSP00000512301.1:p.Val995Ile
ENST00000695975.1:c.*1287G>A ENSP00000512302.1:n.*1287G>A
ENST00000695976.1:c.2971G>A ENSP00000512303.1:p.Val991Ile
ENST00000695981.1:c.3160G>A ENSP00000512306.1:p.Val1054Ile
ENST00000695984.1:c.1168G>A ENSP00000512309.1:p.Val390Ile
ENST00000695986.1:c.*2811G>A ENSP00000512311.1:n.*2811G>A
ENST00000696026.1:c.*1442G>A ENSP00000512335.1:n.*1442G>A
ENST00000696027.1:c.3154G>A ENSP00000512336.1:p.Val1052Ile
ENST00000696028.1:c.3088G>A ENSP00000512337.1:p.Val1030Ile
ENST00000696029.1:c.3154G>A ENSP00000512338.1:p.Val1052Ile
ENST00000696031.1:c.*2678G>A ENSP00000512340.1:n.*2678G>A
ENST00000696032.1:c.3160G>A ENSP00000512341.1:p.Val1054Ile
ENST00000696033.1:c.1160-36319G>A ENSP00000512342.1:n.1160-36319G>A
ENST00000367429.9:c.3160G>A MANE Select ENSP00000356399.4:p.Val1054Ile
ENST00000367429.8:c.3160G>A ENSP00000356399.4:p.Val1054Ile
ENST00000466229.5:n.6258G>A
NM_000186.3:c.3160G>A , LRG_47t1:c.3160G>A NP_000177.2:p.Val1054Ile
XR_001737134.2:n.3346G>A
NM_000186.4:c.3160G>A MANE Select NP_000177.2:p.Val1054Ile