Canonical Allele Identifier: CA422663538
Gene: CFH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196716323A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747193A>G , CM000663.2:g.196747193A>G GRCh38
NC_000001.10:g.196716323A>G , CM000663.1:g.196716323A>G GRCh37
NC_000001.9:g.194982946A>G NCBI36
NG_007259.1:g.100183A>G , LRG_47:g.100183A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4604A>G
ENST00000695970.1:c.3402A>G ENSP00000512297.1:p.Arg1134=
ENST00000695971.1:c.3555A>G ENSP00000512298.1:p.Arg1185=
ENST00000695972.1:c.*653A>G ENSP00000512299.1:n.*653A>G
ENST00000695973.1:c.*1940A>G ENSP00000512300.1:n.*1940A>G
ENST00000695974.1:c.3399A>G ENSP00000512301.1:p.Arg1133=
ENST00000695975.1:c.*1703A>G ENSP00000512302.1:n.*1703A>G
ENST00000695976.1:c.3387A>G ENSP00000512303.1:p.Arg1129=
ENST00000695981.1:c.3576A>G ENSP00000512306.1:p.Arg1192=
ENST00000695984.1:c.1584A>G ENSP00000512309.1:p.Arg528=
ENST00000695986.1:c.*3227A>G ENSP00000512311.1:n.*3227A>G
ENST00000695990.1:n.610A>G
ENST00000696026.1:c.*1858A>G ENSP00000512335.1:n.*1858A>G
ENST00000696027.1:c.3570A>G ENSP00000512336.1:p.Arg1190=
ENST00000696028.1:c.3504A>G ENSP00000512337.1:p.Arg1168=
ENST00000696029.1:c.3570A>G ENSP00000512338.1:p.Arg1190=
ENST00000696031.1:c.*3094A>G ENSP00000512340.1:n.*3094A>G
ENST00000696032.1:c.3576A>G ENSP00000512341.1:p.Arg1192=
ENST00000696033.1:c.1160-32604A>G ENSP00000512342.1:n.1160-32604A>G
ENST00000367429.9:c.3576A>G MANE Select ENSP00000356399.4:p.Arg1192=
ENST00000367429.8:c.3576A>G ENSP00000356399.4:p.Arg1192=
ENST00000466229.5:n.6674A>G
NM_000186.3:c.3576A>G , LRG_47t1:c.3576A>G NP_000177.2:p.Arg1192=
XR_001737134.2:n.3762A>G
NM_000186.4:c.3576A>G MANE Select NP_000177.2:p.Arg1192=