Canonical Allele Identifier: CA343988125

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716375C>A (hg19) ; chr1:g.196747245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747245C>A , CM000663.2:g.196747245C>A	GRCh38
NC_000001.10:g.196716375C>A , CM000663.1:g.196716375C>A	GRCh37
NC_000001.9:g.194982998C>A	NCBI36
NG_007259.1:g.100235C>A , LRG_47:g.100235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4656C>A
ENST00000695970.1:c.3454C>A	ENSP00000512297.1:p.Arg1152Ser
ENST00000695971.1:c.3607C>A	ENSP00000512298.1:p.Arg1203Ser
ENST00000695972.1:c.*705C>A	ENSP00000512299.1:n.*705C>A
ENST00000695973.1:c.*1992C>A	ENSP00000512300.1:n.*1992C>A
ENST00000695974.1:c.3451C>A	ENSP00000512301.1:p.Arg1151Ser
ENST00000695975.1:c.*1755C>A	ENSP00000512302.1:n.*1755C>A
ENST00000695976.1:c.3439C>A	ENSP00000512303.1:p.Arg1147Ser
ENST00000695981.1:c.3580+48C>A	ENSP00000512306.1:n.3580+48C>A
ENST00000695984.1:c.1636C>A	ENSP00000512309.1:p.Arg546Ser
ENST00000695986.1:c.*3279C>A	ENSP00000512311.1:n.*3279C>A
ENST00000695990.1:n.662C>A
ENST00000696026.1:c.*1910C>A	ENSP00000512335.1:n.*1910C>A
ENST00000696027.1:c.3622C>A	ENSP00000512336.1:p.Arg1208Ser
ENST00000696028.1:c.3556C>A	ENSP00000512337.1:p.Arg1186Ser
ENST00000696029.1:c.3622C>A	ENSP00000512338.1:p.Arg1208Ser
ENST00000696031.1:c.*3146C>A	ENSP00000512340.1:n.*3146C>A
ENST00000696032.1:c.3580+48C>A	ENSP00000512341.1:n.3580+48C>A
ENST00000696033.1:c.1160-32552C>A	ENSP00000512342.1:n.1160-32552C>A
ENST00000367429.9:c.3628C>A MANE Select	ENSP00000356399.4:p.Arg1210Ser
ENST00000367429.8:c.3628C>A	ENSP00000356399.4:p.Arg1210Ser
ENST00000466229.5:n.6726C>A
NM_000186.3:c.3628C>A , LRG_47t1:c.3628C>A	NP_000177.2:p.Arg1210Ser
XR_001737134.2:n.3814C>A
NM_000186.4:c.3628C>A MANE Select	NP_000177.2:p.Arg1210Ser