Canonical Allele Identifier: CA343987553

Gene: CFH

Linked Data

• gnomAD v4: 1-196747177-A-G
• MyVariant Identifiers: chr1:g.196716307A>G (hg19) ; chr1:g.196747177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747177A>G , CM000663.2:g.196747177A>G	GRCh38
NC_000001.10:g.196716307A>G , CM000663.1:g.196716307A>G	GRCh37
NC_000001.9:g.194982930A>G	NCBI36
NG_007259.1:g.100167A>G , LRG_47:g.100167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4588A>G
ENST00000695970.1:c.3386A>G	ENSP00000512297.1:p.Gln1129Arg
ENST00000695971.1:c.3539A>G	ENSP00000512298.1:p.Gln1180Arg
ENST00000695972.1:c.*637A>G	ENSP00000512299.1:n.*637A>G
ENST00000695973.1:c.*1924A>G	ENSP00000512300.1:n.*1924A>G
ENST00000695974.1:c.3383A>G	ENSP00000512301.1:p.Gln1128Arg
ENST00000695975.1:c.*1687A>G	ENSP00000512302.1:n.*1687A>G
ENST00000695976.1:c.3371A>G	ENSP00000512303.1:p.Gln1124Arg
ENST00000695981.1:c.3560A>G	ENSP00000512306.1:p.Gln1187Arg
ENST00000695984.1:c.1568A>G	ENSP00000512309.1:p.Gln523Arg
ENST00000695986.1:c.*3211A>G	ENSP00000512311.1:n.*3211A>G
ENST00000695990.1:n.594A>G
ENST00000696026.1:c.*1842A>G	ENSP00000512335.1:n.*1842A>G
ENST00000696027.1:c.3554A>G	ENSP00000512336.1:p.Gln1185Arg
ENST00000696028.1:c.3488A>G	ENSP00000512337.1:p.Gln1163Arg
ENST00000696029.1:c.3554A>G	ENSP00000512338.1:p.Gln1185Arg
ENST00000696031.1:c.*3078A>G	ENSP00000512340.1:n.*3078A>G
ENST00000696032.1:c.3560A>G	ENSP00000512341.1:p.Gln1187Arg
ENST00000696033.1:c.1160-32620A>G	ENSP00000512342.1:n.1160-32620A>G
ENST00000367429.9:c.3560A>G MANE Select	ENSP00000356399.4:p.Gln1187Arg
ENST00000367429.8:c.3560A>G	ENSP00000356399.4:p.Gln1187Arg
ENST00000466229.5:n.6658A>G
NM_000186.3:c.3560A>G , LRG_47t1:c.3560A>G	NP_000177.2:p.Gln1187Arg
XR_001737134.2:n.3746A>G
NM_000186.4:c.3560A>G MANE Select	NP_000177.2:p.Gln1187Arg