Canonical Allele Identifier: CA343987919

Gene: CFH

Linked Data

• ClinVar Variation Id: 1163685
• ClinVar RCV Id: RCV001508944
• dbSNP Id: rs2149118730
• MyVariant Identifiers: chr1:g.196716340A>G (hg19) ; chr1:g.196747210A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747210A>G , CM000663.2:g.196747210A>G	GRCh38
NC_000001.10:g.196716340A>G , CM000663.1:g.196716340A>G	GRCh37
NC_000001.9:g.194982963A>G	NCBI36
NG_007259.1:g.100200A>G , LRG_47:g.100200A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4621A>G
ENST00000695970.1:c.3419A>G	ENSP00000512297.1:p.Glu1140Gly
ENST00000695971.1:c.3572A>G	ENSP00000512298.1:p.Glu1191Gly
ENST00000695972.1:c.*670A>G	ENSP00000512299.1:n.*670A>G
ENST00000695973.1:c.*1957A>G	ENSP00000512300.1:n.*1957A>G
ENST00000695974.1:c.3416A>G	ENSP00000512301.1:p.Glu1139Gly
ENST00000695975.1:c.*1720A>G	ENSP00000512302.1:n.*1720A>G
ENST00000695976.1:c.3404A>G	ENSP00000512303.1:p.Glu1135Gly
ENST00000695981.1:c.3580+13A>G	ENSP00000512306.1:n.3580+13A>G
ENST00000695984.1:c.1601A>G	ENSP00000512309.1:p.Glu534Gly
ENST00000695986.1:c.*3244A>G	ENSP00000512311.1:n.*3244A>G
ENST00000695990.1:n.627A>G
ENST00000696026.1:c.*1875A>G	ENSP00000512335.1:n.*1875A>G
ENST00000696027.1:c.3587A>G	ENSP00000512336.1:p.Glu1196Gly
ENST00000696028.1:c.3521A>G	ENSP00000512337.1:p.Glu1174Gly
ENST00000696029.1:c.3587A>G	ENSP00000512338.1:p.Glu1196Gly
ENST00000696031.1:c.*3111A>G	ENSP00000512340.1:n.*3111A>G
ENST00000696032.1:c.3580+13A>G	ENSP00000512341.1:n.3580+13A>G
ENST00000696033.1:c.1160-32587A>G	ENSP00000512342.1:n.1160-32587A>G
ENST00000367429.9:c.3593A>G MANE Select	ENSP00000356399.4:p.Glu1198Gly
ENST00000367429.8:c.3593A>G	ENSP00000356399.4:p.Glu1198Gly
ENST00000466229.5:n.6691A>G
NM_000186.3:c.3593A>G , LRG_47t1:c.3593A>G	NP_000177.2:p.Glu1198Gly
XR_001737134.2:n.3779A>G
NM_000186.4:c.3593A>G MANE Select	NP_000177.2:p.Glu1198Gly