Canonical Allele Identifier: CA343989060

Gene: CFH

Linked Data

• gnomAD v4: 1-196747266-A-G
• MyVariant Identifiers: chr1:g.196716396A>G (hg19) ; chr1:g.196747266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747266A>G , CM000663.2:g.196747266A>G	GRCh38
NC_000001.10:g.196716396A>G , CM000663.1:g.196716396A>G	GRCh37
NC_000001.9:g.194983019A>G	NCBI36
NG_007259.1:g.100256A>G , LRG_47:g.100256A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4677A>G
ENST00000695970.1:c.3475A>G	ENSP00000512297.1:p.Thr1159Ala
ENST00000695971.1:c.3628A>G	ENSP00000512298.1:p.Thr1210Ala
ENST00000695972.1:c.*726A>G	ENSP00000512299.1:n.*726A>G
ENST00000695973.1:c.*2013A>G	ENSP00000512300.1:n.*2013A>G
ENST00000695974.1:c.3472A>G	ENSP00000512301.1:p.Thr1158Ala
ENST00000695975.1:c.*1776A>G	ENSP00000512302.1:n.*1776A>G
ENST00000695976.1:c.3460A>G	ENSP00000512303.1:p.Thr1154Ala
ENST00000695981.1:c.3580+69A>G	ENSP00000512306.1:n.3580+69A>G
ENST00000695984.1:c.1657A>G	ENSP00000512309.1:p.Thr553Ala
ENST00000695986.1:c.*3300A>G	ENSP00000512311.1:n.*3300A>G
ENST00000695990.1:n.683A>G
ENST00000696026.1:c.*1931A>G	ENSP00000512335.1:n.*1931A>G
ENST00000696027.1:c.3643A>G	ENSP00000512336.1:p.Thr1215Ala
ENST00000696028.1:c.3577A>G	ENSP00000512337.1:p.Thr1193Ala
ENST00000696029.1:c.3643A>G	ENSP00000512338.1:p.Thr1215Ala
ENST00000696031.1:c.*3167A>G	ENSP00000512340.1:n.*3167A>G
ENST00000696032.1:c.3580+69A>G	ENSP00000512341.1:n.3580+69A>G
ENST00000696033.1:c.1160-32531A>G	ENSP00000512342.1:n.1160-32531A>G
ENST00000367429.9:c.3649A>G MANE Select	ENSP00000356399.4:p.Thr1217Ala
ENST00000367429.8:c.3649A>G	ENSP00000356399.4:p.Thr1217Ala
ENST00000466229.5:n.6747A>G
NM_000186.3:c.3649A>G , LRG_47t1:c.3649A>G	NP_000177.2:p.Thr1217Ala
XR_001737134.2:n.3835A>G
NM_000186.4:c.3649A>G MANE Select	NP_000177.2:p.Thr1217Ala