Canonical Allele Identifier: CA343987566

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716308G>T (hg19) ; chr1:g.196747178G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747178G>T , CM000663.2:g.196747178G>T	GRCh38
NC_000001.10:g.196716308G>T , CM000663.1:g.196716308G>T	GRCh37
NC_000001.9:g.194982931G>T	NCBI36
NG_007259.1:g.100168G>T , LRG_47:g.100168G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4589G>T
ENST00000695970.1:c.3387G>T	ENSP00000512297.1:p.Gln1129His
ENST00000695971.1:c.3540G>T	ENSP00000512298.1:p.Gln1180His
ENST00000695972.1:c.*638G>T	ENSP00000512299.1:n.*638G>T
ENST00000695973.1:c.*1925G>T	ENSP00000512300.1:n.*1925G>T
ENST00000695974.1:c.3384G>T	ENSP00000512301.1:p.Gln1128His
ENST00000695975.1:c.*1688G>T	ENSP00000512302.1:n.*1688G>T
ENST00000695976.1:c.3372G>T	ENSP00000512303.1:p.Gln1124His
ENST00000695981.1:c.3561G>T	ENSP00000512306.1:p.Gln1187His
ENST00000695984.1:c.1569G>T	ENSP00000512309.1:p.Gln523His
ENST00000695986.1:c.*3212G>T	ENSP00000512311.1:n.*3212G>T
ENST00000695990.1:n.595G>T
ENST00000696026.1:c.*1843G>T	ENSP00000512335.1:n.*1843G>T
ENST00000696027.1:c.3555G>T	ENSP00000512336.1:p.Gln1185His
ENST00000696028.1:c.3489G>T	ENSP00000512337.1:p.Gln1163His
ENST00000696029.1:c.3555G>T	ENSP00000512338.1:p.Gln1185His
ENST00000696031.1:c.*3079G>T	ENSP00000512340.1:n.*3079G>T
ENST00000696032.1:c.3561G>T	ENSP00000512341.1:p.Gln1187His
ENST00000696033.1:c.1160-32619G>T	ENSP00000512342.1:n.1160-32619G>T
ENST00000367429.9:c.3561G>T MANE Select	ENSP00000356399.4:p.Gln1187His
ENST00000367429.8:c.3561G>T	ENSP00000356399.4:p.Gln1187His
ENST00000466229.5:n.6659G>T
NM_000186.3:c.3561G>T , LRG_47t1:c.3561G>T	NP_000177.2:p.Gln1187His
XR_001737134.2:n.3747G>T
NM_000186.4:c.3561G>T MANE Select	NP_000177.2:p.Gln1187His