Canonical Allele Identifier: CA343987218

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716274A>T (hg19) ; chr1:g.196747144A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747144A>T , CM000663.2:g.196747144A>T	GRCh38
NC_000001.10:g.196716274A>T , CM000663.1:g.196716274A>T	GRCh37
NC_000001.9:g.194982897A>T	NCBI36
NG_007259.1:g.100134A>T , LRG_47:g.100134A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4555A>T
ENST00000695970.1:c.3353A>T	ENSP00000512297.1:p.Asn1118Ile
ENST00000695971.1:c.3506A>T	ENSP00000512298.1:p.Asn1169Ile
ENST00000695972.1:c.*604A>T	ENSP00000512299.1:n.*604A>T
ENST00000695973.1:c.*1891A>T	ENSP00000512300.1:n.*1891A>T
ENST00000695974.1:c.3350A>T	ENSP00000512301.1:p.Asn1117Ile
ENST00000695975.1:c.*1654A>T	ENSP00000512302.1:n.*1654A>T
ENST00000695976.1:c.3338A>T	ENSP00000512303.1:p.Asn1113Ile
ENST00000695981.1:c.3527A>T	ENSP00000512306.1:p.Asn1176Ile
ENST00000695984.1:c.1535A>T	ENSP00000512309.1:p.Asn512Ile
ENST00000695986.1:c.*3178A>T	ENSP00000512311.1:n.*3178A>T
ENST00000695990.1:n.561A>T
ENST00000696026.1:c.*1809A>T	ENSP00000512335.1:n.*1809A>T
ENST00000696027.1:c.3521A>T	ENSP00000512336.1:p.Asn1174Ile
ENST00000696028.1:c.3455A>T	ENSP00000512337.1:p.Asn1152Ile
ENST00000696029.1:c.3521A>T	ENSP00000512338.1:p.Asn1174Ile
ENST00000696031.1:c.*3045A>T	ENSP00000512340.1:n.*3045A>T
ENST00000696032.1:c.3527A>T	ENSP00000512341.1:p.Asn1176Ile
ENST00000696033.1:c.1160-32653A>T	ENSP00000512342.1:n.1160-32653A>T
ENST00000367429.9:c.3527A>T MANE Select	ENSP00000356399.4:p.Asn1176Ile
ENST00000367429.8:c.3527A>T	ENSP00000356399.4:p.Asn1176Ile
ENST00000466229.5:n.6625A>T
NM_000186.3:c.3527A>T , LRG_47t1:c.3527A>T	NP_000177.2:p.Asn1176Ile
XR_001737134.2:n.3713A>T
NM_000186.4:c.3527A>T MANE Select	NP_000177.2:p.Asn1176Ile