Canonical Allele Identifier: CA422662868

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712613A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743483A>G , CM000663.2:g.196743483A>G	GRCh38
NC_000001.10:g.196712613A>G , CM000663.1:g.196712613A>G	GRCh37
NC_000001.9:g.194979236A>G	NCBI36
NG_007259.1:g.96473A>G , LRG_47:g.96473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4193A>G
ENST00000695970.1:c.2991A>G	ENSP00000512297.1:p.Gln997=
ENST00000695971.1:c.3144A>G	ENSP00000512298.1:p.Gln1048=
ENST00000695972.1:c.*242A>G	ENSP00000512299.1:n.*242A>G
ENST00000695973.1:c.*1529A>G	ENSP00000512300.1:n.*1529A>G
ENST00000695974.1:c.2988A>G	ENSP00000512301.1:p.Gln996=
ENST00000695975.1:c.*1292A>G	ENSP00000512302.1:n.*1292A>G
ENST00000695976.1:c.2976A>G	ENSP00000512303.1:p.Gln992=
ENST00000695981.1:c.3165A>G	ENSP00000512306.1:p.Gln1055=
ENST00000695984.1:c.1173A>G	ENSP00000512309.1:p.Gln391=
ENST00000695986.1:c.*2816A>G	ENSP00000512311.1:n.*2816A>G
ENST00000696026.1:c.*1447A>G	ENSP00000512335.1:n.*1447A>G
ENST00000696027.1:c.3159A>G	ENSP00000512336.1:p.Gln1053=
ENST00000696028.1:c.3093A>G	ENSP00000512337.1:p.Gln1031=
ENST00000696029.1:c.3159A>G	ENSP00000512338.1:p.Gln1053=
ENST00000696031.1:c.*2683A>G	ENSP00000512340.1:n.*2683A>G
ENST00000696032.1:c.3165A>G	ENSP00000512341.1:p.Gln1055=
ENST00000696033.1:c.1160-36314A>G	ENSP00000512342.1:n.1160-36314A>G
ENST00000367429.9:c.3165A>G MANE Select	ENSP00000356399.4:p.Gln1055=
ENST00000367429.8:c.3165A>G	ENSP00000356399.4:p.Gln1055=
ENST00000466229.5:n.6263A>G
NM_000186.3:c.3165A>G , LRG_47t1:c.3165A>G	NP_000177.2:p.Gln1055=
XR_001737134.2:n.3351A>G
NM_000186.4:c.3165A>G MANE Select	NP_000177.2:p.Gln1055=