Canonical Allele Identifier: CA343983257

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712632A>G (hg19) ; chr1:g.196743502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743502A>G , CM000663.2:g.196743502A>G	GRCh38
NC_000001.10:g.196712632A>G , CM000663.1:g.196712632A>G	GRCh37
NC_000001.9:g.194979255A>G	NCBI36
NG_007259.1:g.96492A>G , LRG_47:g.96492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4212A>G
ENST00000695970.1:c.3010A>G	ENSP00000512297.1:p.Arg1004Gly
ENST00000695971.1:c.3163A>G	ENSP00000512298.1:p.Arg1055Gly
ENST00000695972.1:c.*261A>G	ENSP00000512299.1:n.*261A>G
ENST00000695973.1:c.*1548A>G	ENSP00000512300.1:n.*1548A>G
ENST00000695974.1:c.3007A>G	ENSP00000512301.1:p.Arg1003Gly
ENST00000695975.1:c.*1311A>G	ENSP00000512302.1:n.*1311A>G
ENST00000695976.1:c.2995A>G	ENSP00000512303.1:p.Arg999Gly
ENST00000695981.1:c.3184A>G	ENSP00000512306.1:p.Arg1062Gly
ENST00000695984.1:c.1192A>G	ENSP00000512309.1:p.Arg398Gly
ENST00000695986.1:c.*2835A>G	ENSP00000512311.1:n.*2835A>G
ENST00000696026.1:c.*1466A>G	ENSP00000512335.1:n.*1466A>G
ENST00000696027.1:c.3178A>G	ENSP00000512336.1:p.Arg1060Gly
ENST00000696028.1:c.3112A>G	ENSP00000512337.1:p.Arg1038Gly
ENST00000696029.1:c.3178A>G	ENSP00000512338.1:p.Arg1060Gly
ENST00000696031.1:c.*2702A>G	ENSP00000512340.1:n.*2702A>G
ENST00000696032.1:c.3184A>G	ENSP00000512341.1:p.Arg1062Gly
ENST00000696033.1:c.1160-36295A>G	ENSP00000512342.1:n.1160-36295A>G
ENST00000367429.9:c.3184A>G MANE Select	ENSP00000356399.4:p.Arg1062Gly
ENST00000367429.8:c.3184A>G	ENSP00000356399.4:p.Arg1062Gly
ENST00000466229.5:n.6282A>G
NM_000186.3:c.3184A>G , LRG_47t1:c.3184A>G	NP_000177.2:p.Arg1062Gly
XR_001737134.2:n.3370A>G
NM_000186.4:c.3184A>G MANE Select	NP_000177.2:p.Arg1062Gly