Canonical Allele Identifier: CA343983189

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712624T>G (hg19) ; chr1:g.196743494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743494T>G , CM000663.2:g.196743494T>G	GRCh38
NC_000001.10:g.196712624T>G , CM000663.1:g.196712624T>G	GRCh37
NC_000001.9:g.194979247T>G	NCBI36
NG_007259.1:g.96484T>G , LRG_47:g.96484T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4204T>G
ENST00000695970.1:c.3002T>G	ENSP00000512297.1:p.Ile1001Arg
ENST00000695971.1:c.3155T>G	ENSP00000512298.1:p.Ile1052Arg
ENST00000695972.1:c.*253T>G	ENSP00000512299.1:n.*253T>G
ENST00000695973.1:c.*1540T>G	ENSP00000512300.1:n.*1540T>G
ENST00000695974.1:c.2999T>G	ENSP00000512301.1:p.Ile1000Arg
ENST00000695975.1:c.*1303T>G	ENSP00000512302.1:n.*1303T>G
ENST00000695976.1:c.2987T>G	ENSP00000512303.1:p.Ile996Arg
ENST00000695981.1:c.3176T>G	ENSP00000512306.1:p.Ile1059Arg
ENST00000695984.1:c.1184T>G	ENSP00000512309.1:p.Ile395Arg
ENST00000695986.1:c.*2827T>G	ENSP00000512311.1:n.*2827T>G
ENST00000696026.1:c.*1458T>G	ENSP00000512335.1:n.*1458T>G
ENST00000696027.1:c.3170T>G	ENSP00000512336.1:p.Ile1057Arg
ENST00000696028.1:c.3104T>G	ENSP00000512337.1:p.Ile1035Arg
ENST00000696029.1:c.3170T>G	ENSP00000512338.1:p.Ile1057Arg
ENST00000696031.1:c.*2694T>G	ENSP00000512340.1:n.*2694T>G
ENST00000696032.1:c.3176T>G	ENSP00000512341.1:p.Ile1059Arg
ENST00000696033.1:c.1160-36303T>G	ENSP00000512342.1:n.1160-36303T>G
ENST00000367429.9:c.3176T>G MANE Select	ENSP00000356399.4:p.Ile1059Arg
ENST00000367429.8:c.3176T>G	ENSP00000356399.4:p.Ile1059Arg
ENST00000466229.5:n.6274T>G
NM_000186.3:c.3176T>G , LRG_47t1:c.3176T>G	NP_000177.2:p.Ile1059Arg
XR_001737134.2:n.3362T>G
NM_000186.4:c.3176T>G MANE Select	NP_000177.2:p.Ile1059Arg