Canonical Allele Identifier: CA343982232

Gene: CFH

Linked Data

• dbSNP Id: rs1061171
• gnomAD v2: 1-196683006-C-T
• gnomAD v4: 1-196713876-C-T
• MyVariant Identifiers: chr1:g.196683006C>T (hg19) ; chr1:g.196713876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713876C>T , CM000663.2:g.196713876C>T	GRCh38
NC_000001.10:g.196683006C>T , CM000663.1:g.196683006C>T	GRCh37
NC_000001.9:g.194949629C>T	NCBI36
NG_007259.1:g.66866C>T , LRG_47:g.66866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1744C>T
ENST00000695969.1:c.1478C>T	ENSP00000512296.1:p.Thr493Ile
ENST00000695970.1:c.1478C>T	ENSP00000512297.1:p.Thr493Ile
ENST00000695971.1:c.1457C>T	ENSP00000512298.1:p.Thr486Ile
ENST00000695972.1:c.1478C>T	ENSP00000512299.1:p.Thr493Ile
ENST00000695973.1:c.1478C>T	ENSP00000512300.1:p.Thr493Ile
ENST00000695974.1:c.1478C>T	ENSP00000512301.1:p.Thr493Ile
ENST00000695975.1:c.1478C>T	ENSP00000512302.1:p.Thr493Ile
ENST00000695976.1:c.1289C>T	ENSP00000512303.1:p.Thr430Ile
ENST00000695981.1:c.1478C>T	ENSP00000512306.1:p.Thr493Ile
ENST00000695983.1:c.1478C>T	ENSP00000512308.1:p.Thr493Ile
ENST00000695984.1:c.245-14470C>T	ENSP00000512309.1:n.245-14470C>T
ENST00000695986.1:c.*1129C>T	ENSP00000512311.1:n.*1129C>T
ENST00000696024.1:n.1562C>T
ENST00000696025.1:n.1562C>T
ENST00000696026.1:c.1478C>T	ENSP00000512335.1:p.Thr493Ile
ENST00000696027.1:c.1478C>T	ENSP00000512336.1:p.Thr493Ile
ENST00000696028.1:c.1478C>T	ENSP00000512337.1:p.Thr493Ile
ENST00000696029.1:c.1478C>T	ENSP00000512338.1:p.Thr493Ile
ENST00000696031.1:c.*996C>T	ENSP00000512340.1:n.*996C>T
ENST00000696032.1:c.1478C>T	ENSP00000512341.1:p.Thr493Ile
ENST00000696033.1:c.1159+24262C>T	ENSP00000512342.1:n.1159+24262C>T
ENST00000367429.9:c.1478C>T MANE Select	ENSP00000356399.4:p.Thr493Ile
ENST00000367429.8:c.1478C>T	ENSP00000356399.4:p.Thr493Ile
ENST00000466229.5:n.3494C>T
NM_000186.3:c.1478C>T , LRG_47t1:c.1478C>T	NP_000177.2:p.Thr493Ile
XR_001737134.2:n.1563C>T
NM_000186.4:c.1478C>T MANE Select	NP_000177.2:p.Thr493Ile