Canonical Allele Identifier: CA729694382

Gene: CFH

Linked Data

• dbSNP Id: rs1194131453
• MyVariant Identifiers: chr1:g.196712218T>A (hg19) ; chr1:g.196743088T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743088T>A , CM000663.2:g.196743088T>A	GRCh38
NC_000001.10:g.196712218T>A , CM000663.1:g.196712218T>A	GRCh37
NC_000001.9:g.194978841T>A	NCBI36
NG_007259.1:g.96078T>A , LRG_47:g.96078T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4162-364T>A
ENST00000695970.1:c.2960-364T>A	ENSP00000512297.1:n.2960-364T>A
ENST00000695971.1:c.3113-364T>A	ENSP00000512298.1:n.3113-364T>A
ENST00000695972.1:c.*211-364T>A	ENSP00000512299.1:n.*211-364T>A
ENST00000695973.1:c.*1498-364T>A	ENSP00000512300.1:n.*1498-364T>A
ENST00000695974.1:c.2957-364T>A	ENSP00000512301.1:n.2957-364T>A
ENST00000695975.1:c.*1261-364T>A	ENSP00000512302.1:n.*1261-364T>A
ENST00000695976.1:c.2945-364T>A	ENSP00000512303.1:n.2945-364T>A
ENST00000695981.1:c.3134-364T>A	ENSP00000512306.1:n.3134-364T>A
ENST00000695984.1:c.1142-364T>A	ENSP00000512309.1:n.1142-364T>A
ENST00000695986.1:c.*2785-364T>A	ENSP00000512311.1:n.*2785-364T>A
ENST00000696026.1:c.*1416-364T>A	ENSP00000512335.1:n.*1416-364T>A
ENST00000696027.1:c.3128-364T>A	ENSP00000512336.1:n.3128-364T>A
ENST00000696028.1:c.3062-364T>A	ENSP00000512337.1:n.3062-364T>A
ENST00000696029.1:c.3128-364T>A	ENSP00000512338.1:n.3128-364T>A
ENST00000696031.1:c.*2652-364T>A	ENSP00000512340.1:n.*2652-364T>A
ENST00000696032.1:c.3134-364T>A	ENSP00000512341.1:n.3134-364T>A
ENST00000696033.1:c.1160-36709T>A	ENSP00000512342.1:n.1160-36709T>A
ENST00000367429.9:c.3134-364T>A MANE Select	ENSP00000356399.4:n.3134-364T>A
ENST00000367429.8:c.3134-364T>A	ENSP00000356399.4:n.3134-364T>A
ENST00000466229.5:n.6232-364T>A
NM_000186.3:c.3134-364T>A , LRG_47t1:c.3134-364T>A	NP_000177.2:n.3134-364T>A
XR_001737134.2:n.3320-364T>A
NM_000186.4:c.3134-364T>A MANE Select	NP_000177.2:n.3134-364T>A