Canonical Allele Identifier: CA10786842
Gene: CFH HGNC NCBI

Linked Data

dbSNP Id: rs6677604

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196717788G>A , CM000663.2:g.196717788G>A GRCh38
NC_000001.10:g.196686918G>A , CM000663.1:g.196686918G>A GRCh37
NC_000001.9:g.194953541G>A NCBI36
NG_007259.1:g.70778G>A , LRG_47:g.70778G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.1962+2019G>A
ENST00000695969.1:c.1696+2019G>A ENSP00000512296.1:n.1696+2019G>A
ENST00000695970.1:c.1696+2019G>A ENSP00000512297.1:n.1696+2019G>A
ENST00000695971.1:c.1675+2019G>A ENSP00000512298.1:n.1675+2019G>A
ENST00000695972.1:c.1696+2019G>A ENSP00000512299.1:n.1696+2019G>A
ENST00000695973.1:c.1696+2019G>A ENSP00000512300.1:n.1696+2019G>A
ENST00000695974.1:c.1696+2019G>A ENSP00000512301.1:n.1696+2019G>A
ENST00000695975.1:c.1696+2019G>A ENSP00000512302.1:n.1696+2019G>A
ENST00000695976.1:c.1507+2019G>A ENSP00000512303.1:n.1507+2019G>A
ENST00000695981.1:c.1696+2019G>A ENSP00000512306.1:n.1696+2019G>A
ENST00000695983.1:c.1696+2019G>A ENSP00000512308.1:n.1696+2019G>A
ENST00000695984.1:c.245-10558G>A ENSP00000512309.1:n.245-10558G>A
ENST00000695986.1:c.*1347+2019G>A ENSP00000512311.1:n.*1347+2019G>A
ENST00000696025.1:n.1780+2019G>A
ENST00000696026.1:c.1700+2015G>A ENSP00000512335.1:n.1700+2015G>A
ENST00000696027.1:c.1696+2019G>A ENSP00000512336.1:n.1696+2019G>A
ENST00000696028.1:c.1696+2019G>A ENSP00000512337.1:n.1696+2019G>A
ENST00000696029.1:c.1696+2019G>A ENSP00000512338.1:n.1696+2019G>A
ENST00000696031.1:c.*1214+2019G>A ENSP00000512340.1:n.*1214+2019G>A
ENST00000696032.1:c.1696+2019G>A ENSP00000512341.1:n.1696+2019G>A
ENST00000696033.1:c.1159+28174G>A ENSP00000512342.1:n.1159+28174G>A
ENST00000367429.9:c.1696+2019G>A MANE Select ENSP00000356399.4:n.1696+2019G>A
ENST00000367429.8:c.1696+2019G>A ENSP00000356399.4:n.1696+2019G>A
ENST00000466229.5:n.3712+2019G>A
NM_000186.3:c.1696+2019G>A , LRG_47t1:c.1696+2019G>A NP_000177.2:n.1696+2019G>A
XR_001737134.2:n.1781+2019G>A
NM_000186.4:c.1696+2019G>A MANE Select NP_000177.2:n.1696+2019G>A