Canonical Allele Identifier: CA2649647236
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747319A>C , CM000663.2:g.196747319A>C GRCh38
NC_000001.10:g.196716449A>C , CM000663.1:g.196716449A>C GRCh37
NC_000001.9:g.194983072A>C NCBI36
NG_007259.1:g.100309A>C , LRG_47:g.100309A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470918.2:n.4730A>C
ENST00000695970.1:c.*6A>C ENSP00000512297.1:n.*6A>C
ENST00000695971.1:c.*6A>C ENSP00000512298.1:n.*6A>C
ENST00000695972.1:c.*779A>C ENSP00000512299.1:n.*779A>C
ENST00000695973.1:c.*2066A>C ENSP00000512300.1:n.*2066A>C
ENST00000695974.1:c.*6A>C ENSP00000512301.1:n.*6A>C
ENST00000695975.1:c.*1829A>C ENSP00000512302.1:n.*1829A>C
ENST00000695976.1:c.*6A>C ENSP00000512303.1:n.*6A>C
ENST00000695981.1:c.3580+122A>C ENSP00000512306.1:n.3580+122A>C
ENST00000695984.1:c.*6A>C ENSP00000512309.1:n.*6A>C
ENST00000695986.1:c.*3353A>C ENSP00000512311.1:n.*3353A>C
ENST00000695990.1:n.736A>C
ENST00000696026.1:c.*1984A>C ENSP00000512335.1:n.*1984A>C
ENST00000696027.1:c.*6A>C ENSP00000512336.1:n.*6A>C
ENST00000696028.1:c.*6A>C ENSP00000512337.1:n.*6A>C
ENST00000696029.1:c.*6A>C ENSP00000512338.1:n.*6A>C
ENST00000696031.1:c.*3220A>C ENSP00000512340.1:n.*3220A>C
ENST00000696032.1:c.3580+122A>C ENSP00000512341.1:n.3580+122A>C
ENST00000696033.1:c.1160-32478A>C ENSP00000512342.1:n.1160-32478A>C
ENST00000367429.9:c.*6A>C MANE Select ENSP00000356399.4:n.*6A>C
ENST00000367429.8:c.*6A>C ENSP00000356399.4:n.*6A>C
ENST00000466229.5:n.6800A>C
NM_000186.3:c.*6A>C , LRG_47t1:c.*6A>C NP_000177.2:n.*6A>C
XR_001737134.2:n.3888A>C
NM_000186.4:c.*6A>C MANE Select NP_000177.2:n.*6A>C