Canonical Allele Identifier: CA343988127

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4656C>G
ENST00000695970.1:c.3454C>G	ENSP00000512297.1:p.Arg1152Gly
ENST00000695971.1:c.3607C>G	ENSP00000512298.1:p.Arg1203Gly
ENST00000695972.1:c.*705C>G	ENSP00000512299.1:n.*705C>G
ENST00000695973.1:c.*1992C>G	ENSP00000512300.1:n.*1992C>G
ENST00000695974.1:c.3451C>G	ENSP00000512301.1:p.Arg1151Gly
ENST00000695975.1:c.*1755C>G	ENSP00000512302.1:n.*1755C>G
ENST00000695976.1:c.3439C>G	ENSP00000512303.1:p.Arg1147Gly
ENST00000695981.1:c.3580+48C>G	ENSP00000512306.1:n.3580+48C>G
ENST00000695984.1:c.1636C>G	ENSP00000512309.1:p.Arg546Gly
ENST00000695986.1:c.*3279C>G	ENSP00000512311.1:n.*3279C>G
ENST00000695990.1:n.662C>G
ENST00000696026.1:c.*1910C>G	ENSP00000512335.1:n.*1910C>G
ENST00000696027.1:c.3622C>G	ENSP00000512336.1:p.Arg1208Gly
ENST00000696028.1:c.3556C>G	ENSP00000512337.1:p.Arg1186Gly
ENST00000696029.1:c.3622C>G	ENSP00000512338.1:p.Arg1208Gly
ENST00000696031.1:c.*3146C>G	ENSP00000512340.1:n.*3146C>G
ENST00000696032.1:c.3580+48C>G	ENSP00000512341.1:n.3580+48C>G
ENST00000696033.1:c.1160-32552C>G	ENSP00000512342.1:n.1160-32552C>G
ENST00000367429.9:c.3628C>G MANE Select	ENSP00000356399.4:p.Arg1210Gly
ENST00000367429.8:c.3628C>G	ENSP00000356399.4:p.Arg1210Gly
ENST00000466229.5:n.6726C>G
NM_000186.3:c.3628C>G , LRG_47t1:c.3628C>G	NP_000177.2:p.Arg1210Gly
XR_001737134.2:n.3814C>G
NM_000186.4:c.3628C>G MANE Select	NP_000177.2:p.Arg1210Gly