Canonical Allele Identifier: CA343989344

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716419G>T (hg19) ; chr1:g.196747289G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747289G>T , CM000663.2:g.196747289G>T	GRCh38
NC_000001.10:g.196716419G>T , CM000663.1:g.196716419G>T	GRCh37
NC_000001.9:g.194983042G>T	NCBI36
NG_007259.1:g.100279G>T , LRG_47:g.100279G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4700G>T
ENST00000695970.1:c.3498G>T	ENSP00000512297.1:p.Glu1166Asp
ENST00000695971.1:c.3651G>T	ENSP00000512298.1:p.Glu1217Asp
ENST00000695972.1:c.*749G>T	ENSP00000512299.1:n.*749G>T
ENST00000695973.1:c.*2036G>T	ENSP00000512300.1:n.*2036G>T
ENST00000695974.1:c.3495G>T	ENSP00000512301.1:p.Glu1165Asp
ENST00000695975.1:c.*1799G>T	ENSP00000512302.1:n.*1799G>T
ENST00000695976.1:c.3483G>T	ENSP00000512303.1:p.Glu1161Asp
ENST00000695981.1:c.3580+92G>T	ENSP00000512306.1:n.3580+92G>T
ENST00000695984.1:c.1680G>T	ENSP00000512309.1:p.Glu560Asp
ENST00000695986.1:c.*3323G>T	ENSP00000512311.1:n.*3323G>T
ENST00000695990.1:n.706G>T
ENST00000696026.1:c.*1954G>T	ENSP00000512335.1:n.*1954G>T
ENST00000696027.1:c.3666G>T	ENSP00000512336.1:p.Glu1222Asp
ENST00000696028.1:c.3600G>T	ENSP00000512337.1:p.Glu1200Asp
ENST00000696029.1:c.3666G>T	ENSP00000512338.1:p.Glu1222Asp
ENST00000696031.1:c.*3190G>T	ENSP00000512340.1:n.*3190G>T
ENST00000696032.1:c.3580+92G>T	ENSP00000512341.1:n.3580+92G>T
ENST00000696033.1:c.1160-32508G>T	ENSP00000512342.1:n.1160-32508G>T
ENST00000367429.9:c.3672G>T MANE Select	ENSP00000356399.4:p.Glu1224Asp
ENST00000367429.8:c.3672G>T	ENSP00000356399.4:p.Glu1224Asp
ENST00000466229.5:n.6770G>T
NM_000186.3:c.3672G>T , LRG_47t1:c.3672G>T	NP_000177.2:p.Glu1224Asp
XR_001737134.2:n.3858G>T
NM_000186.4:c.3672G>T MANE Select	NP_000177.2:p.Glu1224Asp