Canonical Allele Identifier: CA422663445

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716258C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747128C>A , CM000663.2:g.196747128C>A	GRCh38
NC_000001.10:g.196716258C>A , CM000663.1:g.196716258C>A	GRCh37
NC_000001.9:g.194982881C>A	NCBI36
NG_007259.1:g.100118C>A , LRG_47:g.100118C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4539C>A
ENST00000695970.1:c.3337C>A	ENSP00000512297.1:p.Arg1113=
ENST00000695971.1:c.3490C>A	ENSP00000512298.1:p.Arg1164=
ENST00000695972.1:c.*588C>A	ENSP00000512299.1:n.*588C>A
ENST00000695973.1:c.*1875C>A	ENSP00000512300.1:n.*1875C>A
ENST00000695974.1:c.3334C>A	ENSP00000512301.1:p.Arg1112=
ENST00000695975.1:c.*1638C>A	ENSP00000512302.1:n.*1638C>A
ENST00000695976.1:c.3322C>A	ENSP00000512303.1:p.Arg1108=
ENST00000695981.1:c.3511C>A	ENSP00000512306.1:p.Arg1171=
ENST00000695984.1:c.1519C>A	ENSP00000512309.1:p.Arg507=
ENST00000695986.1:c.*3162C>A	ENSP00000512311.1:n.*3162C>A
ENST00000695990.1:n.545C>A
ENST00000696026.1:c.*1793C>A	ENSP00000512335.1:n.*1793C>A
ENST00000696027.1:c.3505C>A	ENSP00000512336.1:p.Arg1169=
ENST00000696028.1:c.3439C>A	ENSP00000512337.1:p.Arg1147=
ENST00000696029.1:c.3505C>A	ENSP00000512338.1:p.Arg1169=
ENST00000696031.1:c.*3029C>A	ENSP00000512340.1:n.*3029C>A
ENST00000696032.1:c.3511C>A	ENSP00000512341.1:p.Arg1171=
ENST00000696033.1:c.1160-32669C>A	ENSP00000512342.1:n.1160-32669C>A
ENST00000367429.9:c.3511C>A MANE Select	ENSP00000356399.4:p.Arg1171=
ENST00000367429.8:c.3511C>A	ENSP00000356399.4:p.Arg1171=
ENST00000466229.5:n.6609C>A
NM_000186.3:c.3511C>A , LRG_47t1:c.3511C>A	NP_000177.2:p.Arg1171=
XR_001737134.2:n.3697C>A
NM_000186.4:c.3511C>A MANE Select	NP_000177.2:p.Arg1171=