Canonical Allele Identifier: CA343983536

Gene: CFH

Linked Data

• gnomAD v4: 1-196743535-G-A
• MyVariant Identifiers: chr1:g.196712665G>A (hg19) ; chr1:g.196743535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743535G>A , CM000663.2:g.196743535G>A	GRCh38
NC_000001.10:g.196712665G>A , CM000663.1:g.196712665G>A	GRCh37
NC_000001.9:g.194979288G>A	NCBI36
NG_007259.1:g.96525G>A , LRG_47:g.96525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4245G>A
ENST00000695970.1:c.3043G>A	ENSP00000512297.1:p.Val1015Ile
ENST00000695971.1:c.3196G>A	ENSP00000512298.1:p.Val1066Ile
ENST00000695972.1:c.*294G>A	ENSP00000512299.1:n.*294G>A
ENST00000695973.1:c.*1581G>A	ENSP00000512300.1:n.*1581G>A
ENST00000695974.1:c.3040G>A	ENSP00000512301.1:p.Val1014Ile
ENST00000695975.1:c.*1344G>A	ENSP00000512302.1:n.*1344G>A
ENST00000695976.1:c.3028G>A	ENSP00000512303.1:p.Val1010Ile
ENST00000695981.1:c.3217G>A	ENSP00000512306.1:p.Val1073Ile
ENST00000695984.1:c.1225G>A	ENSP00000512309.1:p.Val409Ile
ENST00000695986.1:c.*2868G>A	ENSP00000512311.1:n.*2868G>A
ENST00000696026.1:c.*1499G>A	ENSP00000512335.1:n.*1499G>A
ENST00000696027.1:c.3211G>A	ENSP00000512336.1:p.Val1071Ile
ENST00000696028.1:c.3145G>A	ENSP00000512337.1:p.Val1049Ile
ENST00000696029.1:c.3211G>A	ENSP00000512338.1:p.Val1071Ile
ENST00000696031.1:c.*2735G>A	ENSP00000512340.1:n.*2735G>A
ENST00000696032.1:c.3217G>A	ENSP00000512341.1:p.Val1073Ile
ENST00000696033.1:c.1160-36262G>A	ENSP00000512342.1:n.1160-36262G>A
ENST00000367429.9:c.3217G>A MANE Select	ENSP00000356399.4:p.Val1073Ile
ENST00000367429.8:c.3217G>A	ENSP00000356399.4:p.Val1073Ile
ENST00000466229.5:n.6315G>A
NM_000186.3:c.3217G>A , LRG_47t1:c.3217G>A	NP_000177.2:p.Val1073Ile
XR_001737134.2:n.3403G>A
NM_000186.4:c.3217G>A MANE Select	NP_000177.2:p.Val1073Ile