Canonical Allele Identifier: CA343983182

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712623A>G (hg19) ; chr1:g.196743493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743493A>G , CM000663.2:g.196743493A>G	GRCh38
NC_000001.10:g.196712623A>G , CM000663.1:g.196712623A>G	GRCh37
NC_000001.9:g.194979246A>G	NCBI36
NG_007259.1:g.96483A>G , LRG_47:g.96483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4203A>G
ENST00000695970.1:c.3001A>G	ENSP00000512297.1:p.Ile1001Val
ENST00000695971.1:c.3154A>G	ENSP00000512298.1:p.Ile1052Val
ENST00000695972.1:c.*252A>G	ENSP00000512299.1:n.*252A>G
ENST00000695973.1:c.*1539A>G	ENSP00000512300.1:n.*1539A>G
ENST00000695974.1:c.2998A>G	ENSP00000512301.1:p.Ile1000Val
ENST00000695975.1:c.*1302A>G	ENSP00000512302.1:n.*1302A>G
ENST00000695976.1:c.2986A>G	ENSP00000512303.1:p.Ile996Val
ENST00000695981.1:c.3175A>G	ENSP00000512306.1:p.Ile1059Val
ENST00000695984.1:c.1183A>G	ENSP00000512309.1:p.Ile395Val
ENST00000695986.1:c.*2826A>G	ENSP00000512311.1:n.*2826A>G
ENST00000696026.1:c.*1457A>G	ENSP00000512335.1:n.*1457A>G
ENST00000696027.1:c.3169A>G	ENSP00000512336.1:p.Ile1057Val
ENST00000696028.1:c.3103A>G	ENSP00000512337.1:p.Ile1035Val
ENST00000696029.1:c.3169A>G	ENSP00000512338.1:p.Ile1057Val
ENST00000696031.1:c.*2693A>G	ENSP00000512340.1:n.*2693A>G
ENST00000696032.1:c.3175A>G	ENSP00000512341.1:p.Ile1059Val
ENST00000696033.1:c.1160-36304A>G	ENSP00000512342.1:n.1160-36304A>G
ENST00000367429.9:c.3175A>G MANE Select	ENSP00000356399.4:p.Ile1059Val
ENST00000367429.8:c.3175A>G	ENSP00000356399.4:p.Ile1059Val
ENST00000466229.5:n.6273A>G
NM_000186.3:c.3175A>G , LRG_47t1:c.3175A>G	NP_000177.2:p.Ile1059Val
XR_001737134.2:n.3361A>G
NM_000186.4:c.3175A>G MANE Select	NP_000177.2:p.Ile1059Val