Canonical Allele Identifier: CA343988041

Gene: CFH

Linked Data

• gnomAD v4: 1-196747227-G-A
• MyVariant Identifiers: chr1:g.196716357G>A (hg19) ; chr1:g.196747227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747227G>A , CM000663.2:g.196747227G>A	GRCh38
NC_000001.10:g.196716357G>A , CM000663.1:g.196716357G>A	GRCh37
NC_000001.9:g.194982980G>A	NCBI36
NG_007259.1:g.100217G>A , LRG_47:g.100217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4638G>A
ENST00000695970.1:c.3436G>A	ENSP00000512297.1:p.Gly1146Arg
ENST00000695971.1:c.3589G>A	ENSP00000512298.1:p.Gly1197Arg
ENST00000695972.1:c.*687G>A	ENSP00000512299.1:n.*687G>A
ENST00000695973.1:c.*1974G>A	ENSP00000512300.1:n.*1974G>A
ENST00000695974.1:c.3433G>A	ENSP00000512301.1:p.Gly1145Arg
ENST00000695975.1:c.*1737G>A	ENSP00000512302.1:n.*1737G>A
ENST00000695976.1:c.3421G>A	ENSP00000512303.1:p.Gly1141Arg
ENST00000695981.1:c.3580+30G>A	ENSP00000512306.1:n.3580+30G>A
ENST00000695984.1:c.1618G>A	ENSP00000512309.1:p.Gly540Arg
ENST00000695986.1:c.*3261G>A	ENSP00000512311.1:n.*3261G>A
ENST00000695990.1:n.644G>A
ENST00000696026.1:c.*1892G>A	ENSP00000512335.1:n.*1892G>A
ENST00000696027.1:c.3604G>A	ENSP00000512336.1:p.Gly1202Arg
ENST00000696028.1:c.3538G>A	ENSP00000512337.1:p.Gly1180Arg
ENST00000696029.1:c.3604G>A	ENSP00000512338.1:p.Gly1202Arg
ENST00000696031.1:c.*3128G>A	ENSP00000512340.1:n.*3128G>A
ENST00000696032.1:c.3580+30G>A	ENSP00000512341.1:n.3580+30G>A
ENST00000696033.1:c.1160-32570G>A	ENSP00000512342.1:n.1160-32570G>A
ENST00000367429.9:c.3610G>A MANE Select	ENSP00000356399.4:p.Gly1204Arg
ENST00000367429.8:c.3610G>A	ENSP00000356399.4:p.Gly1204Arg
ENST00000466229.5:n.6708G>A
NM_000186.3:c.3610G>A , LRG_47t1:c.3610G>A	NP_000177.2:p.Gly1204Arg
XR_001737134.2:n.3796G>A
NM_000186.4:c.3610G>A MANE Select	NP_000177.2:p.Gly1204Arg