Canonical Allele Identifier: CA343983369

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712643T>A (hg19) ; chr1:g.196743513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743513T>A , CM000663.2:g.196743513T>A	GRCh38
NC_000001.10:g.196712643T>A , CM000663.1:g.196712643T>A	GRCh37
NC_000001.9:g.194979266T>A	NCBI36
NG_007259.1:g.96503T>A , LRG_47:g.96503T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4223T>A
ENST00000695970.1:c.3021T>A	ENSP00000512297.1:p.Ser1007Arg
ENST00000695971.1:c.3174T>A	ENSP00000512298.1:p.Ser1058Arg
ENST00000695972.1:c.*272T>A	ENSP00000512299.1:n.*272T>A
ENST00000695973.1:c.*1559T>A	ENSP00000512300.1:n.*1559T>A
ENST00000695974.1:c.3018T>A	ENSP00000512301.1:p.Ser1006Arg
ENST00000695975.1:c.*1322T>A	ENSP00000512302.1:n.*1322T>A
ENST00000695976.1:c.3006T>A	ENSP00000512303.1:p.Ser1002Arg
ENST00000695981.1:c.3195T>A	ENSP00000512306.1:p.Ser1065Arg
ENST00000695984.1:c.1203T>A	ENSP00000512309.1:p.Ser401Arg
ENST00000695986.1:c.*2846T>A	ENSP00000512311.1:n.*2846T>A
ENST00000696026.1:c.*1477T>A	ENSP00000512335.1:n.*1477T>A
ENST00000696027.1:c.3189T>A	ENSP00000512336.1:p.Ser1063Arg
ENST00000696028.1:c.3123T>A	ENSP00000512337.1:p.Ser1041Arg
ENST00000696029.1:c.3189T>A	ENSP00000512338.1:p.Ser1063Arg
ENST00000696031.1:c.*2713T>A	ENSP00000512340.1:n.*2713T>A
ENST00000696032.1:c.3195T>A	ENSP00000512341.1:p.Ser1065Arg
ENST00000696033.1:c.1160-36284T>A	ENSP00000512342.1:n.1160-36284T>A
ENST00000367429.9:c.3195T>A MANE Select	ENSP00000356399.4:p.Ser1065Arg
ENST00000367429.8:c.3195T>A	ENSP00000356399.4:p.Ser1065Arg
ENST00000466229.5:n.6293T>A
NM_000186.3:c.3195T>A , LRG_47t1:c.3195T>A	NP_000177.2:p.Ser1065Arg
XR_001737134.2:n.3381T>A
NM_000186.4:c.3195T>A MANE Select	NP_000177.2:p.Ser1065Arg