Canonical Allele Identifier: CA343988235

Gene: CFH

Linked Data

• gnomAD v4: 1-196747261-G-A
• MyVariant Identifiers: chr1:g.196716391G>A (hg19) ; chr1:g.196747261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747261G>A , CM000663.2:g.196747261G>A	GRCh38
NC_000001.10:g.196716391G>A , CM000663.1:g.196716391G>A	GRCh37
NC_000001.9:g.194983014G>A	NCBI36
NG_007259.1:g.100251G>A , LRG_47:g.100251G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4672G>A
ENST00000695970.1:c.3470G>A	ENSP00000512297.1:p.Arg1157Gln
ENST00000695971.1:c.3623G>A	ENSP00000512298.1:p.Arg1208Gln
ENST00000695972.1:c.*721G>A	ENSP00000512299.1:n.*721G>A
ENST00000695973.1:c.*2008G>A	ENSP00000512300.1:n.*2008G>A
ENST00000695974.1:c.3467G>A	ENSP00000512301.1:p.Arg1156Gln
ENST00000695975.1:c.*1771G>A	ENSP00000512302.1:n.*1771G>A
ENST00000695976.1:c.3455G>A	ENSP00000512303.1:p.Arg1152Gln
ENST00000695981.1:c.3580+64G>A	ENSP00000512306.1:n.3580+64G>A
ENST00000695984.1:c.1652G>A	ENSP00000512309.1:p.Arg551Gln
ENST00000695986.1:c.*3295G>A	ENSP00000512311.1:n.*3295G>A
ENST00000695990.1:n.678G>A
ENST00000696026.1:c.*1926G>A	ENSP00000512335.1:n.*1926G>A
ENST00000696027.1:c.3638G>A	ENSP00000512336.1:p.Arg1213Gln
ENST00000696028.1:c.3572G>A	ENSP00000512337.1:p.Arg1191Gln
ENST00000696029.1:c.3638G>A	ENSP00000512338.1:p.Arg1213Gln
ENST00000696031.1:c.*3162G>A	ENSP00000512340.1:n.*3162G>A
ENST00000696032.1:c.3580+64G>A	ENSP00000512341.1:n.3580+64G>A
ENST00000696033.1:c.1160-32536G>A	ENSP00000512342.1:n.1160-32536G>A
ENST00000367429.9:c.3644G>A MANE Select	ENSP00000356399.4:p.Arg1215Gln
ENST00000367429.8:c.3644G>A	ENSP00000356399.4:p.Arg1215Gln
ENST00000466229.5:n.6742G>A
NM_000186.3:c.3644G>A , LRG_47t1:c.3644G>A	NP_000177.2:p.Arg1215Gln
XR_001737134.2:n.3830G>A
NM_000186.4:c.3644G>A MANE Select	NP_000177.2:p.Arg1215Gln