Canonical Allele Identifier: CA343983609

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712674C>A (hg19) ; chr1:g.196743544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743544C>A , CM000663.2:g.196743544C>A	GRCh38
NC_000001.10:g.196712674C>A , CM000663.1:g.196712674C>A	GRCh37
NC_000001.9:g.194979297C>A	NCBI36
NG_007259.1:g.96534C>A , LRG_47:g.96534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4254C>A
ENST00000695970.1:c.3052C>A	ENSP00000512297.1:p.Gln1018Lys
ENST00000695971.1:c.3205C>A	ENSP00000512298.1:p.Gln1069Lys
ENST00000695972.1:c.*303C>A	ENSP00000512299.1:n.*303C>A
ENST00000695973.1:c.*1590C>A	ENSP00000512300.1:n.*1590C>A
ENST00000695974.1:c.3049C>A	ENSP00000512301.1:p.Gln1017Lys
ENST00000695975.1:c.*1353C>A	ENSP00000512302.1:n.*1353C>A
ENST00000695976.1:c.3037C>A	ENSP00000512303.1:p.Gln1013Lys
ENST00000695981.1:c.3226C>A	ENSP00000512306.1:p.Gln1076Lys
ENST00000695984.1:c.1234C>A	ENSP00000512309.1:p.Gln412Lys
ENST00000695986.1:c.*2877C>A	ENSP00000512311.1:n.*2877C>A
ENST00000696026.1:c.*1508C>A	ENSP00000512335.1:n.*1508C>A
ENST00000696027.1:c.3220C>A	ENSP00000512336.1:p.Gln1074Lys
ENST00000696028.1:c.3154C>A	ENSP00000512337.1:p.Gln1052Lys
ENST00000696029.1:c.3220C>A	ENSP00000512338.1:p.Gln1074Lys
ENST00000696031.1:c.*2744C>A	ENSP00000512340.1:n.*2744C>A
ENST00000696032.1:c.3226C>A	ENSP00000512341.1:p.Gln1076Lys
ENST00000696033.1:c.1160-36253C>A	ENSP00000512342.1:n.1160-36253C>A
ENST00000367429.9:c.3226C>A MANE Select	ENSP00000356399.4:p.Gln1076Lys
ENST00000367429.8:c.3226C>A	ENSP00000356399.4:p.Gln1076Lys
ENST00000466229.5:n.6324C>A
NM_000186.3:c.3226C>A , LRG_47t1:c.3226C>A	NP_000177.2:p.Gln1076Lys
XR_001737134.2:n.3412C>A
NM_000186.4:c.3226C>A MANE Select	NP_000177.2:p.Gln1076Lys