Canonical Allele Identifier: CA343982777

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712590T>A (hg19) ; chr1:g.196743460T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743460T>A , CM000663.2:g.196743460T>A	GRCh38
NC_000001.10:g.196712590T>A , CM000663.1:g.196712590T>A	GRCh37
NC_000001.9:g.194979213T>A	NCBI36
NG_007259.1:g.96450T>A , LRG_47:g.96450T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4170T>A
ENST00000695970.1:c.2968T>A	ENSP00000512297.1:p.Cys990Ser
ENST00000695971.1:c.3121T>A	ENSP00000512298.1:p.Cys1041Ser
ENST00000695972.1:c.*219T>A	ENSP00000512299.1:n.*219T>A
ENST00000695973.1:c.*1506T>A	ENSP00000512300.1:n.*1506T>A
ENST00000695974.1:c.2965T>A	ENSP00000512301.1:p.Cys989Ser
ENST00000695975.1:c.*1269T>A	ENSP00000512302.1:n.*1269T>A
ENST00000695976.1:c.2953T>A	ENSP00000512303.1:p.Cys985Ser
ENST00000695981.1:c.3142T>A	ENSP00000512306.1:p.Cys1048Ser
ENST00000695984.1:c.1150T>A	ENSP00000512309.1:p.Cys384Ser
ENST00000695986.1:c.*2793T>A	ENSP00000512311.1:n.*2793T>A
ENST00000696026.1:c.*1424T>A	ENSP00000512335.1:n.*1424T>A
ENST00000696027.1:c.3136T>A	ENSP00000512336.1:p.Cys1046Ser
ENST00000696028.1:c.3070T>A	ENSP00000512337.1:p.Cys1024Ser
ENST00000696029.1:c.3136T>A	ENSP00000512338.1:p.Cys1046Ser
ENST00000696031.1:c.*2660T>A	ENSP00000512340.1:n.*2660T>A
ENST00000696032.1:c.3142T>A	ENSP00000512341.1:p.Cys1048Ser
ENST00000696033.1:c.1160-36337T>A	ENSP00000512342.1:n.1160-36337T>A
ENST00000367429.9:c.3142T>A MANE Select	ENSP00000356399.4:p.Cys1048Ser
ENST00000367429.8:c.3142T>A	ENSP00000356399.4:p.Cys1048Ser
ENST00000466229.5:n.6240T>A
NM_000186.3:c.3142T>A , LRG_47t1:c.3142T>A	NP_000177.2:p.Cys1048Ser
XR_001737134.2:n.3328T>A
NM_000186.4:c.3142T>A MANE Select	NP_000177.2:p.Cys1048Ser