Canonical Allele Identifier: CA343983376

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712644A>G (hg19) ; chr1:g.196743514A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743514A>G , CM000663.2:g.196743514A>G	GRCh38
NC_000001.10:g.196712644A>G , CM000663.1:g.196712644A>G	GRCh37
NC_000001.9:g.194979267A>G	NCBI36
NG_007259.1:g.96504A>G , LRG_47:g.96504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4224A>G
ENST00000695970.1:c.3022A>G	ENSP00000512297.1:p.Lys1008Glu
ENST00000695971.1:c.3175A>G	ENSP00000512298.1:p.Lys1059Glu
ENST00000695972.1:c.*273A>G	ENSP00000512299.1:n.*273A>G
ENST00000695973.1:c.*1560A>G	ENSP00000512300.1:n.*1560A>G
ENST00000695974.1:c.3019A>G	ENSP00000512301.1:p.Lys1007Glu
ENST00000695975.1:c.*1323A>G	ENSP00000512302.1:n.*1323A>G
ENST00000695976.1:c.3007A>G	ENSP00000512303.1:p.Lys1003Glu
ENST00000695981.1:c.3196A>G	ENSP00000512306.1:p.Lys1066Glu
ENST00000695984.1:c.1204A>G	ENSP00000512309.1:p.Lys402Glu
ENST00000695986.1:c.*2847A>G	ENSP00000512311.1:n.*2847A>G
ENST00000696026.1:c.*1478A>G	ENSP00000512335.1:n.*1478A>G
ENST00000696027.1:c.3190A>G	ENSP00000512336.1:p.Lys1064Glu
ENST00000696028.1:c.3124A>G	ENSP00000512337.1:p.Lys1042Glu
ENST00000696029.1:c.3190A>G	ENSP00000512338.1:p.Lys1064Glu
ENST00000696031.1:c.*2714A>G	ENSP00000512340.1:n.*2714A>G
ENST00000696032.1:c.3196A>G	ENSP00000512341.1:p.Lys1066Glu
ENST00000696033.1:c.1160-36283A>G	ENSP00000512342.1:n.1160-36283A>G
ENST00000367429.9:c.3196A>G MANE Select	ENSP00000356399.4:p.Lys1066Glu
ENST00000367429.8:c.3196A>G	ENSP00000356399.4:p.Lys1066Glu
ENST00000466229.5:n.6294A>G
NM_000186.3:c.3196A>G , LRG_47t1:c.3196A>G	NP_000177.2:p.Lys1066Glu
XR_001737134.2:n.3382A>G
NM_000186.4:c.3196A>G MANE Select	NP_000177.2:p.Lys1066Glu