Canonical Allele Identifier: CA343987465

Gene: CFH

Linked Data

• dbSNP Id: rs1653042478
• gnomAD v4: 1-196747168-C-T
• MyVariant Identifiers: chr1:g.196716298C>T (hg19) ; chr1:g.196747168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747168C>T , CM000663.2:g.196747168C>T	GRCh38
NC_000001.10:g.196716298C>T , CM000663.1:g.196716298C>T	GRCh37
NC_000001.9:g.194982921C>T	NCBI36
NG_007259.1:g.100158C>T , LRG_47:g.100158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4579C>T
ENST00000695970.1:c.3377C>T	ENSP00000512297.1:p.Thr1126Ile
ENST00000695971.1:c.3530C>T	ENSP00000512298.1:p.Thr1177Ile
ENST00000695972.1:c.*628C>T	ENSP00000512299.1:n.*628C>T
ENST00000695973.1:c.*1915C>T	ENSP00000512300.1:n.*1915C>T
ENST00000695974.1:c.3374C>T	ENSP00000512301.1:p.Thr1125Ile
ENST00000695975.1:c.*1678C>T	ENSP00000512302.1:n.*1678C>T
ENST00000695976.1:c.3362C>T	ENSP00000512303.1:p.Thr1121Ile
ENST00000695981.1:c.3551C>T	ENSP00000512306.1:p.Thr1184Ile
ENST00000695984.1:c.1559C>T	ENSP00000512309.1:p.Thr520Ile
ENST00000695986.1:c.*3202C>T	ENSP00000512311.1:n.*3202C>T
ENST00000695990.1:n.585C>T
ENST00000696026.1:c.*1833C>T	ENSP00000512335.1:n.*1833C>T
ENST00000696027.1:c.3545C>T	ENSP00000512336.1:p.Thr1182Ile
ENST00000696028.1:c.3479C>T	ENSP00000512337.1:p.Thr1160Ile
ENST00000696029.1:c.3545C>T	ENSP00000512338.1:p.Thr1182Ile
ENST00000696031.1:c.*3069C>T	ENSP00000512340.1:n.*3069C>T
ENST00000696032.1:c.3551C>T	ENSP00000512341.1:p.Thr1184Ile
ENST00000696033.1:c.1160-32629C>T	ENSP00000512342.1:n.1160-32629C>T
ENST00000367429.9:c.3551C>T MANE Select	ENSP00000356399.4:p.Thr1184Ile
ENST00000367429.8:c.3551C>T	ENSP00000356399.4:p.Thr1184Ile
ENST00000466229.5:n.6649C>T
NM_000186.3:c.3551C>T , LRG_47t1:c.3551C>T	NP_000177.2:p.Thr1184Ile
XR_001737134.2:n.3737C>T
NM_000186.4:c.3551C>T MANE Select	NP_000177.2:p.Thr1184Ile