Canonical Allele Identifier: CA343989258

Gene: CFH

Linked Data

• gnomAD v4: 1-196747285-T-A
• MyVariant Identifiers: chr1:g.196716415T>A (hg19) ; chr1:g.196747285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747285T>A , CM000663.2:g.196747285T>A	GRCh38
NC_000001.10:g.196716415T>A , CM000663.1:g.196716415T>A	GRCh37
NC_000001.9:g.194983038T>A	NCBI36
NG_007259.1:g.100275T>A , LRG_47:g.100275T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4696T>A
ENST00000695970.1:c.3494T>A	ENSP00000512297.1:p.Leu1165Gln
ENST00000695971.1:c.3647T>A	ENSP00000512298.1:p.Leu1216Gln
ENST00000695972.1:c.*745T>A	ENSP00000512299.1:n.*745T>A
ENST00000695973.1:c.*2032T>A	ENSP00000512300.1:n.*2032T>A
ENST00000695974.1:c.3491T>A	ENSP00000512301.1:p.Leu1164Gln
ENST00000695975.1:c.*1795T>A	ENSP00000512302.1:n.*1795T>A
ENST00000695976.1:c.3479T>A	ENSP00000512303.1:p.Leu1160Gln
ENST00000695981.1:c.3580+88T>A	ENSP00000512306.1:n.3580+88T>A
ENST00000695984.1:c.1676T>A	ENSP00000512309.1:p.Leu559Gln
ENST00000695986.1:c.*3319T>A	ENSP00000512311.1:n.*3319T>A
ENST00000695990.1:n.702T>A
ENST00000696026.1:c.*1950T>A	ENSP00000512335.1:n.*1950T>A
ENST00000696027.1:c.3662T>A	ENSP00000512336.1:p.Leu1221Gln
ENST00000696028.1:c.3596T>A	ENSP00000512337.1:p.Leu1199Gln
ENST00000696029.1:c.3662T>A	ENSP00000512338.1:p.Leu1221Gln
ENST00000696031.1:c.*3186T>A	ENSP00000512340.1:n.*3186T>A
ENST00000696032.1:c.3580+88T>A	ENSP00000512341.1:n.3580+88T>A
ENST00000696033.1:c.1160-32512T>A	ENSP00000512342.1:n.1160-32512T>A
ENST00000367429.9:c.3668T>A MANE Select	ENSP00000356399.4:p.Leu1223Gln
ENST00000367429.8:c.3668T>A	ENSP00000356399.4:p.Leu1223Gln
ENST00000466229.5:n.6766T>A
NM_000186.3:c.3668T>A , LRG_47t1:c.3668T>A	NP_000177.2:p.Leu1223Gln
XR_001737134.2:n.3854T>A
NM_000186.4:c.3668T>A MANE Select	NP_000177.2:p.Leu1223Gln