Canonical Allele Identifier: CA422662891

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712655T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743525T>G , CM000663.2:g.196743525T>G	GRCh38
NC_000001.10:g.196712655T>G , CM000663.1:g.196712655T>G	GRCh37
NC_000001.9:g.194979278T>G	NCBI36
NG_007259.1:g.96515T>G , LRG_47:g.96515T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4235T>G
ENST00000695970.1:c.3033T>G	ENSP00000512297.1:p.Ser1011=
ENST00000695971.1:c.3186T>G	ENSP00000512298.1:p.Ser1062=
ENST00000695972.1:c.*284T>G	ENSP00000512299.1:n.*284T>G
ENST00000695973.1:c.*1571T>G	ENSP00000512300.1:n.*1571T>G
ENST00000695974.1:c.3030T>G	ENSP00000512301.1:p.Ser1010=
ENST00000695975.1:c.*1334T>G	ENSP00000512302.1:n.*1334T>G
ENST00000695976.1:c.3018T>G	ENSP00000512303.1:p.Ser1006=
ENST00000695981.1:c.3207T>G	ENSP00000512306.1:p.Ser1069=
ENST00000695984.1:c.1215T>G	ENSP00000512309.1:p.Ser405=
ENST00000695986.1:c.*2858T>G	ENSP00000512311.1:n.*2858T>G
ENST00000696026.1:c.*1489T>G	ENSP00000512335.1:n.*1489T>G
ENST00000696027.1:c.3201T>G	ENSP00000512336.1:p.Ser1067=
ENST00000696028.1:c.3135T>G	ENSP00000512337.1:p.Ser1045=
ENST00000696029.1:c.3201T>G	ENSP00000512338.1:p.Ser1067=
ENST00000696031.1:c.*2725T>G	ENSP00000512340.1:n.*2725T>G
ENST00000696032.1:c.3207T>G	ENSP00000512341.1:p.Ser1069=
ENST00000696033.1:c.1160-36272T>G	ENSP00000512342.1:n.1160-36272T>G
ENST00000367429.9:c.3207T>G MANE Select	ENSP00000356399.4:p.Ser1069=
ENST00000367429.8:c.3207T>G	ENSP00000356399.4:p.Ser1069=
ENST00000466229.5:n.6305T>G
NM_000186.3:c.3207T>G , LRG_47t1:c.3207T>G	NP_000177.2:p.Ser1069=
XR_001737134.2:n.3393T>G
NM_000186.4:c.3207T>G MANE Select	NP_000177.2:p.Ser1069=