Canonical Allele Identifier: CA343987760

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716325C>G (hg19) ; chr1:g.196747195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747195C>G , CM000663.2:g.196747195C>G	GRCh38
NC_000001.10:g.196716325C>G , CM000663.1:g.196716325C>G	GRCh37
NC_000001.9:g.194982948C>G	NCBI36
NG_007259.1:g.100185C>G , LRG_47:g.100185C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4606C>G
ENST00000695970.1:c.3404C>G	ENSP00000512297.1:p.Thr1135Arg
ENST00000695971.1:c.3557C>G	ENSP00000512298.1:p.Thr1186Arg
ENST00000695972.1:c.*655C>G	ENSP00000512299.1:n.*655C>G
ENST00000695973.1:c.*1942C>G	ENSP00000512300.1:n.*1942C>G
ENST00000695974.1:c.3401C>G	ENSP00000512301.1:p.Thr1134Arg
ENST00000695975.1:c.*1705C>G	ENSP00000512302.1:n.*1705C>G
ENST00000695976.1:c.3389C>G	ENSP00000512303.1:p.Thr1130Arg
ENST00000695981.1:c.3578C>G	ENSP00000512306.1:p.Thr1193Arg
ENST00000695984.1:c.1586C>G	ENSP00000512309.1:p.Thr529Arg
ENST00000695986.1:c.*3229C>G	ENSP00000512311.1:n.*3229C>G
ENST00000695990.1:n.612C>G
ENST00000696026.1:c.*1860C>G	ENSP00000512335.1:n.*1860C>G
ENST00000696027.1:c.3572C>G	ENSP00000512336.1:p.Thr1191Arg
ENST00000696028.1:c.3506C>G	ENSP00000512337.1:p.Thr1169Arg
ENST00000696029.1:c.3572C>G	ENSP00000512338.1:p.Thr1191Arg
ENST00000696031.1:c.*3096C>G	ENSP00000512340.1:n.*3096C>G
ENST00000696032.1:c.3578C>G	ENSP00000512341.1:p.Thr1193Arg
ENST00000696033.1:c.1160-32602C>G	ENSP00000512342.1:n.1160-32602C>G
ENST00000367429.9:c.3578C>G MANE Select	ENSP00000356399.4:p.Thr1193Arg
ENST00000367429.8:c.3578C>G	ENSP00000356399.4:p.Thr1193Arg
ENST00000466229.5:n.6676C>G
NM_000186.3:c.3578C>G , LRG_47t1:c.3578C>G	NP_000177.2:p.Thr1193Arg
XR_001737134.2:n.3764C>G
NM_000186.4:c.3578C>G MANE Select	NP_000177.2:p.Thr1193Arg