Canonical Allele Identifier: CA343988006

Gene: CFH

Linked Data

• COSMIC: COSM3966154
• MyVariant Identifiers: chr1:g.196716352A>T (hg19) ; chr1:g.196747222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747222A>T , CM000663.2:g.196747222A>T	GRCh38
NC_000001.10:g.196716352A>T , CM000663.1:g.196716352A>T	GRCh37
NC_000001.9:g.194982975A>T	NCBI36
NG_007259.1:g.100212A>T , LRG_47:g.100212A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4633A>T
ENST00000695970.1:c.3431A>T	ENSP00000512297.1:p.Lys1144Ile
ENST00000695971.1:c.3584A>T	ENSP00000512298.1:p.Lys1195Ile
ENST00000695972.1:c.*682A>T	ENSP00000512299.1:n.*682A>T
ENST00000695973.1:c.*1969A>T	ENSP00000512300.1:n.*1969A>T
ENST00000695974.1:c.3428A>T	ENSP00000512301.1:p.Lys1143Ile
ENST00000695975.1:c.*1732A>T	ENSP00000512302.1:n.*1732A>T
ENST00000695976.1:c.3416A>T	ENSP00000512303.1:p.Lys1139Ile
ENST00000695981.1:c.3580+25A>T	ENSP00000512306.1:n.3580+25A>T
ENST00000695984.1:c.1613A>T	ENSP00000512309.1:p.Lys538Ile
ENST00000695986.1:c.*3256A>T	ENSP00000512311.1:n.*3256A>T
ENST00000695990.1:n.639A>T
ENST00000696026.1:c.*1887A>T	ENSP00000512335.1:n.*1887A>T
ENST00000696027.1:c.3599A>T	ENSP00000512336.1:p.Lys1200Ile
ENST00000696028.1:c.3533A>T	ENSP00000512337.1:p.Lys1178Ile
ENST00000696029.1:c.3599A>T	ENSP00000512338.1:p.Lys1200Ile
ENST00000696031.1:c.*3123A>T	ENSP00000512340.1:n.*3123A>T
ENST00000696032.1:c.3580+25A>T	ENSP00000512341.1:n.3580+25A>T
ENST00000696033.1:c.1160-32575A>T	ENSP00000512342.1:n.1160-32575A>T
ENST00000367429.9:c.3605A>T MANE Select	ENSP00000356399.4:p.Lys1202Ile
ENST00000367429.8:c.3605A>T	ENSP00000356399.4:p.Lys1202Ile
ENST00000466229.5:n.6703A>T
NM_000186.3:c.3605A>T , LRG_47t1:c.3605A>T	NP_000177.2:p.Lys1202Ile
XR_001737134.2:n.3791A>T
NM_000186.4:c.3605A>T MANE Select	NP_000177.2:p.Lys1202Ile