Canonical Allele Identifier: CA422662904

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712664A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743534A>G , CM000663.2:g.196743534A>G	GRCh38
NC_000001.10:g.196712664A>G , CM000663.1:g.196712664A>G	GRCh37
NC_000001.9:g.194979287A>G	NCBI36
NG_007259.1:g.96524A>G , LRG_47:g.96524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4244A>G
ENST00000695970.1:c.3042A>G	ENSP00000512297.1:p.Arg1014=
ENST00000695971.1:c.3195A>G	ENSP00000512298.1:p.Arg1065=
ENST00000695972.1:c.*293A>G	ENSP00000512299.1:n.*293A>G
ENST00000695973.1:c.*1580A>G	ENSP00000512300.1:n.*1580A>G
ENST00000695974.1:c.3039A>G	ENSP00000512301.1:p.Arg1013=
ENST00000695975.1:c.*1343A>G	ENSP00000512302.1:n.*1343A>G
ENST00000695976.1:c.3027A>G	ENSP00000512303.1:p.Arg1009=
ENST00000695981.1:c.3216A>G	ENSP00000512306.1:p.Arg1072=
ENST00000695984.1:c.1224A>G	ENSP00000512309.1:p.Arg408=
ENST00000695986.1:c.*2867A>G	ENSP00000512311.1:n.*2867A>G
ENST00000696026.1:c.*1498A>G	ENSP00000512335.1:n.*1498A>G
ENST00000696027.1:c.3210A>G	ENSP00000512336.1:p.Arg1070=
ENST00000696028.1:c.3144A>G	ENSP00000512337.1:p.Arg1048=
ENST00000696029.1:c.3210A>G	ENSP00000512338.1:p.Arg1070=
ENST00000696031.1:c.*2734A>G	ENSP00000512340.1:n.*2734A>G
ENST00000696032.1:c.3216A>G	ENSP00000512341.1:p.Arg1072=
ENST00000696033.1:c.1160-36263A>G	ENSP00000512342.1:n.1160-36263A>G
ENST00000367429.9:c.3216A>G MANE Select	ENSP00000356399.4:p.Arg1072=
ENST00000367429.8:c.3216A>G	ENSP00000356399.4:p.Arg1072=
ENST00000466229.5:n.6314A>G
NM_000186.3:c.3216A>G , LRG_47t1:c.3216A>G	NP_000177.2:p.Arg1072=
XR_001737134.2:n.3402A>G
NM_000186.4:c.3216A>G MANE Select	NP_000177.2:p.Arg1072=