Canonical Allele Identifier: CA343984080

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712742A>T (hg19) ; chr1:g.196743612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743612A>T , CM000663.2:g.196743612A>T	GRCh38
NC_000001.10:g.196712742A>T , CM000663.1:g.196712742A>T	GRCh37
NC_000001.9:g.194979365A>T	NCBI36
NG_007259.1:g.96602A>T , LRG_47:g.96602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4322A>T
ENST00000695970.1:c.3120A>T	ENSP00000512297.1:p.Glu1040Asp
ENST00000695971.1:c.3273A>T	ENSP00000512298.1:p.Glu1091Asp
ENST00000695972.1:c.*371A>T	ENSP00000512299.1:n.*371A>T
ENST00000695973.1:c.*1658A>T	ENSP00000512300.1:n.*1658A>T
ENST00000695974.1:c.3117A>T	ENSP00000512301.1:p.Glu1039Asp
ENST00000695975.1:c.*1421A>T	ENSP00000512302.1:n.*1421A>T
ENST00000695976.1:c.3105A>T	ENSP00000512303.1:p.Glu1035Asp
ENST00000695981.1:c.3294A>T	ENSP00000512306.1:p.Glu1098Asp
ENST00000695984.1:c.1302A>T	ENSP00000512309.1:p.Glu434Asp
ENST00000695986.1:c.*2945A>T	ENSP00000512311.1:n.*2945A>T
ENST00000696026.1:c.*1576A>T	ENSP00000512335.1:n.*1576A>T
ENST00000696027.1:c.3288A>T	ENSP00000512336.1:p.Glu1096Asp
ENST00000696028.1:c.3222A>T	ENSP00000512337.1:p.Glu1074Asp
ENST00000696029.1:c.3288A>T	ENSP00000512338.1:p.Glu1096Asp
ENST00000696031.1:c.*2812A>T	ENSP00000512340.1:n.*2812A>T
ENST00000696032.1:c.3294A>T	ENSP00000512341.1:p.Glu1098Asp
ENST00000696033.1:c.1160-36185A>T	ENSP00000512342.1:n.1160-36185A>T
ENST00000367429.9:c.3294A>T MANE Select	ENSP00000356399.4:p.Glu1098Asp
ENST00000367429.8:c.3294A>T	ENSP00000356399.4:p.Glu1098Asp
ENST00000466229.5:n.6392A>T
NM_000186.3:c.3294A>T , LRG_47t1:c.3294A>T	NP_000177.2:p.Glu1098Asp
XR_001737134.2:n.3480A>T
NM_000186.4:c.3294A>T MANE Select	NP_000177.2:p.Glu1098Asp