Canonical Allele Identifier: CA343983383

Gene: CFH

Linked Data

• dbSNP Id: rs1652887763
• MyVariant Identifiers: chr1:g.196712645A>T (hg19) ; chr1:g.196743515A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743515A>T , CM000663.2:g.196743515A>T	GRCh38
NC_000001.10:g.196712645A>T , CM000663.1:g.196712645A>T	GRCh37
NC_000001.9:g.194979268A>T	NCBI36
NG_007259.1:g.96505A>T , LRG_47:g.96505A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4225A>T
ENST00000695970.1:c.3023A>T	ENSP00000512297.1:p.Lys1008Ile
ENST00000695971.1:c.3176A>T	ENSP00000512298.1:p.Lys1059Ile
ENST00000695972.1:c.*274A>T	ENSP00000512299.1:n.*274A>T
ENST00000695973.1:c.*1561A>T	ENSP00000512300.1:n.*1561A>T
ENST00000695974.1:c.3020A>T	ENSP00000512301.1:p.Lys1007Ile
ENST00000695975.1:c.*1324A>T	ENSP00000512302.1:n.*1324A>T
ENST00000695976.1:c.3008A>T	ENSP00000512303.1:p.Lys1003Ile
ENST00000695981.1:c.3197A>T	ENSP00000512306.1:p.Lys1066Ile
ENST00000695984.1:c.1205A>T	ENSP00000512309.1:p.Lys402Ile
ENST00000695986.1:c.*2848A>T	ENSP00000512311.1:n.*2848A>T
ENST00000696026.1:c.*1479A>T	ENSP00000512335.1:n.*1479A>T
ENST00000696027.1:c.3191A>T	ENSP00000512336.1:p.Lys1064Ile
ENST00000696028.1:c.3125A>T	ENSP00000512337.1:p.Lys1042Ile
ENST00000696029.1:c.3191A>T	ENSP00000512338.1:p.Lys1064Ile
ENST00000696031.1:c.*2715A>T	ENSP00000512340.1:n.*2715A>T
ENST00000696032.1:c.3197A>T	ENSP00000512341.1:p.Lys1066Ile
ENST00000696033.1:c.1160-36282A>T	ENSP00000512342.1:n.1160-36282A>T
ENST00000367429.9:c.3197A>T MANE Select	ENSP00000356399.4:p.Lys1066Ile
ENST00000367429.8:c.3197A>T	ENSP00000356399.4:p.Lys1066Ile
ENST00000466229.5:n.6295A>T
NM_000186.3:c.3197A>T , LRG_47t1:c.3197A>T	NP_000177.2:p.Lys1066Ile
XR_001737134.2:n.3383A>T
NM_000186.4:c.3197A>T MANE Select	NP_000177.2:p.Lys1066Ile