Canonical Allele Identifier: CA343988187

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716385C>G (hg19) ; chr1:g.196747255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747255C>G , CM000663.2:g.196747255C>G	GRCh38
NC_000001.10:g.196716385C>G , CM000663.1:g.196716385C>G	GRCh37
NC_000001.9:g.194983008C>G	NCBI36
NG_007259.1:g.100245C>G , LRG_47:g.100245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4666C>G
ENST00000695970.1:c.3464C>G	ENSP00000512297.1:p.Thr1155Arg
ENST00000695971.1:c.3617C>G	ENSP00000512298.1:p.Thr1206Arg
ENST00000695972.1:c.*715C>G	ENSP00000512299.1:n.*715C>G
ENST00000695973.1:c.*2002C>G	ENSP00000512300.1:n.*2002C>G
ENST00000695974.1:c.3461C>G	ENSP00000512301.1:p.Thr1154Arg
ENST00000695975.1:c.*1765C>G	ENSP00000512302.1:n.*1765C>G
ENST00000695976.1:c.3449C>G	ENSP00000512303.1:p.Thr1150Arg
ENST00000695981.1:c.3580+58C>G	ENSP00000512306.1:n.3580+58C>G
ENST00000695984.1:c.1646C>G	ENSP00000512309.1:p.Thr549Arg
ENST00000695986.1:c.*3289C>G	ENSP00000512311.1:n.*3289C>G
ENST00000695990.1:n.672C>G
ENST00000696026.1:c.*1920C>G	ENSP00000512335.1:n.*1920C>G
ENST00000696027.1:c.3632C>G	ENSP00000512336.1:p.Thr1211Arg
ENST00000696028.1:c.3566C>G	ENSP00000512337.1:p.Thr1189Arg
ENST00000696029.1:c.3632C>G	ENSP00000512338.1:p.Thr1211Arg
ENST00000696031.1:c.*3156C>G	ENSP00000512340.1:n.*3156C>G
ENST00000696032.1:c.3580+58C>G	ENSP00000512341.1:n.3580+58C>G
ENST00000696033.1:c.1160-32542C>G	ENSP00000512342.1:n.1160-32542C>G
ENST00000367429.9:c.3638C>G MANE Select	ENSP00000356399.4:p.Thr1213Arg
ENST00000367429.8:c.3638C>G	ENSP00000356399.4:p.Thr1213Arg
ENST00000466229.5:n.6736C>G
NM_000186.3:c.3638C>G , LRG_47t1:c.3638C>G	NP_000177.2:p.Thr1213Arg
XR_001737134.2:n.3824C>G
NM_000186.4:c.3638C>G MANE Select	NP_000177.2:p.Thr1213Arg