Canonical Allele Identifier: CA343987758

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4606C>A
ENST00000695970.1:c.3404C>A	ENSP00000512297.1:p.Thr1135Lys
ENST00000695971.1:c.3557C>A	ENSP00000512298.1:p.Thr1186Lys
ENST00000695972.1:c.*655C>A	ENSP00000512299.1:n.*655C>A
ENST00000695973.1:c.*1942C>A	ENSP00000512300.1:n.*1942C>A
ENST00000695974.1:c.3401C>A	ENSP00000512301.1:p.Thr1134Lys
ENST00000695975.1:c.*1705C>A	ENSP00000512302.1:n.*1705C>A
ENST00000695976.1:c.3389C>A	ENSP00000512303.1:p.Thr1130Lys
ENST00000695981.1:c.3578C>A	ENSP00000512306.1:p.Thr1193Lys
ENST00000695984.1:c.1586C>A	ENSP00000512309.1:p.Thr529Lys
ENST00000695986.1:c.*3229C>A	ENSP00000512311.1:n.*3229C>A
ENST00000695990.1:n.612C>A
ENST00000696026.1:c.*1860C>A	ENSP00000512335.1:n.*1860C>A
ENST00000696027.1:c.3572C>A	ENSP00000512336.1:p.Thr1191Lys
ENST00000696028.1:c.3506C>A	ENSP00000512337.1:p.Thr1169Lys
ENST00000696029.1:c.3572C>A	ENSP00000512338.1:p.Thr1191Lys
ENST00000696031.1:c.*3096C>A	ENSP00000512340.1:n.*3096C>A
ENST00000696032.1:c.3578C>A	ENSP00000512341.1:p.Thr1193Lys
ENST00000696033.1:c.1160-32602C>A	ENSP00000512342.1:n.1160-32602C>A
ENST00000367429.9:c.3578C>A MANE Select	ENSP00000356399.4:p.Thr1193Lys
ENST00000367429.8:c.3578C>A	ENSP00000356399.4:p.Thr1193Lys
ENST00000466229.5:n.6676C>A
NM_000186.3:c.3578C>A , LRG_47t1:c.3578C>A	NP_000177.2:p.Thr1193Lys
XR_001737134.2:n.3764C>A
NM_000186.4:c.3578C>A MANE Select	NP_000177.2:p.Thr1193Lys