Canonical Allele Identifier: CA343984005

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712729G>T (hg19) ; chr1:g.196743599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743599G>T , CM000663.2:g.196743599G>T	GRCh38
NC_000001.10:g.196712729G>T , CM000663.1:g.196712729G>T	GRCh37
NC_000001.9:g.194979352G>T	NCBI36
NG_007259.1:g.96589G>T , LRG_47:g.96589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4309G>T
ENST00000695970.1:c.3107G>T	ENSP00000512297.1:p.Gly1036Val
ENST00000695971.1:c.3260G>T	ENSP00000512298.1:p.Gly1087Val
ENST00000695972.1:c.*358G>T	ENSP00000512299.1:n.*358G>T
ENST00000695973.1:c.*1645G>T	ENSP00000512300.1:n.*1645G>T
ENST00000695974.1:c.3104G>T	ENSP00000512301.1:p.Gly1035Val
ENST00000695975.1:c.*1408G>T	ENSP00000512302.1:n.*1408G>T
ENST00000695976.1:c.3092G>T	ENSP00000512303.1:p.Gly1031Val
ENST00000695981.1:c.3281G>T	ENSP00000512306.1:p.Gly1094Val
ENST00000695984.1:c.1289G>T	ENSP00000512309.1:p.Gly430Val
ENST00000695986.1:c.*2932G>T	ENSP00000512311.1:n.*2932G>T
ENST00000696026.1:c.*1563G>T	ENSP00000512335.1:n.*1563G>T
ENST00000696027.1:c.3275G>T	ENSP00000512336.1:p.Gly1092Val
ENST00000696028.1:c.3209G>T	ENSP00000512337.1:p.Gly1070Val
ENST00000696029.1:c.3275G>T	ENSP00000512338.1:p.Gly1092Val
ENST00000696031.1:c.*2799G>T	ENSP00000512340.1:n.*2799G>T
ENST00000696032.1:c.3281G>T	ENSP00000512341.1:p.Gly1094Val
ENST00000696033.1:c.1160-36198G>T	ENSP00000512342.1:n.1160-36198G>T
ENST00000367429.9:c.3281G>T MANE Select	ENSP00000356399.4:p.Gly1094Val
ENST00000367429.8:c.3281G>T	ENSP00000356399.4:p.Gly1094Val
ENST00000466229.5:n.6379G>T
NM_000186.3:c.3281G>T , LRG_47t1:c.3281G>T	NP_000177.2:p.Gly1094Val
XR_001737134.2:n.3467G>T
NM_000186.4:c.3281G>T MANE Select	NP_000177.2:p.Gly1094Val