Canonical Allele Identifier: CA343988134

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716378T>A (hg19) ; chr1:g.196747248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747248T>A , CM000663.2:g.196747248T>A	GRCh38
NC_000001.10:g.196716378T>A , CM000663.1:g.196716378T>A	GRCh37
NC_000001.9:g.194983001T>A	NCBI36
NG_007259.1:g.100238T>A , LRG_47:g.100238T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4659T>A
ENST00000695970.1:c.3457T>A	ENSP00000512297.1:p.Ser1153Thr
ENST00000695971.1:c.3610T>A	ENSP00000512298.1:p.Ser1204Thr
ENST00000695972.1:c.*708T>A	ENSP00000512299.1:n.*708T>A
ENST00000695973.1:c.*1995T>A	ENSP00000512300.1:n.*1995T>A
ENST00000695974.1:c.3454T>A	ENSP00000512301.1:p.Ser1152Thr
ENST00000695975.1:c.*1758T>A	ENSP00000512302.1:n.*1758T>A
ENST00000695976.1:c.3442T>A	ENSP00000512303.1:p.Ser1148Thr
ENST00000695981.1:c.3580+51T>A	ENSP00000512306.1:n.3580+51T>A
ENST00000695984.1:c.1639T>A	ENSP00000512309.1:p.Ser547Thr
ENST00000695986.1:c.*3282T>A	ENSP00000512311.1:n.*3282T>A
ENST00000695990.1:n.665T>A
ENST00000696026.1:c.*1913T>A	ENSP00000512335.1:n.*1913T>A
ENST00000696027.1:c.3625T>A	ENSP00000512336.1:p.Ser1209Thr
ENST00000696028.1:c.3559T>A	ENSP00000512337.1:p.Ser1187Thr
ENST00000696029.1:c.3625T>A	ENSP00000512338.1:p.Ser1209Thr
ENST00000696031.1:c.*3149T>A	ENSP00000512340.1:n.*3149T>A
ENST00000696032.1:c.3580+51T>A	ENSP00000512341.1:n.3580+51T>A
ENST00000696033.1:c.1160-32549T>A	ENSP00000512342.1:n.1160-32549T>A
ENST00000367429.9:c.3631T>A MANE Select	ENSP00000356399.4:p.Ser1211Thr
ENST00000367429.8:c.3631T>A	ENSP00000356399.4:p.Ser1211Thr
ENST00000466229.5:n.6729T>A
NM_000186.3:c.3631T>A , LRG_47t1:c.3631T>A	NP_000177.2:p.Ser1211Thr
XR_001737134.2:n.3817T>A
NM_000186.4:c.3631T>A MANE Select	NP_000177.2:p.Ser1211Thr