Canonical Allele Identifier: CA343983187

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4204T>A
ENST00000695970.1:c.3002T>A	ENSP00000512297.1:p.Ile1001Lys
ENST00000695971.1:c.3155T>A	ENSP00000512298.1:p.Ile1052Lys
ENST00000695972.1:c.*253T>A	ENSP00000512299.1:n.*253T>A
ENST00000695973.1:c.*1540T>A	ENSP00000512300.1:n.*1540T>A
ENST00000695974.1:c.2999T>A	ENSP00000512301.1:p.Ile1000Lys
ENST00000695975.1:c.*1303T>A	ENSP00000512302.1:n.*1303T>A
ENST00000695976.1:c.2987T>A	ENSP00000512303.1:p.Ile996Lys
ENST00000695981.1:c.3176T>A	ENSP00000512306.1:p.Ile1059Lys
ENST00000695984.1:c.1184T>A	ENSP00000512309.1:p.Ile395Lys
ENST00000695986.1:c.*2827T>A	ENSP00000512311.1:n.*2827T>A
ENST00000696026.1:c.*1458T>A	ENSP00000512335.1:n.*1458T>A
ENST00000696027.1:c.3170T>A	ENSP00000512336.1:p.Ile1057Lys
ENST00000696028.1:c.3104T>A	ENSP00000512337.1:p.Ile1035Lys
ENST00000696029.1:c.3170T>A	ENSP00000512338.1:p.Ile1057Lys
ENST00000696031.1:c.*2694T>A	ENSP00000512340.1:n.*2694T>A
ENST00000696032.1:c.3176T>A	ENSP00000512341.1:p.Ile1059Lys
ENST00000696033.1:c.1160-36303T>A	ENSP00000512342.1:n.1160-36303T>A
ENST00000367429.9:c.3176T>A MANE Select	ENSP00000356399.4:p.Ile1059Lys
ENST00000367429.8:c.3176T>A	ENSP00000356399.4:p.Ile1059Lys
ENST00000466229.5:n.6274T>A
NM_000186.3:c.3176T>A , LRG_47t1:c.3176T>A	NP_000177.2:p.Ile1059Lys
XR_001737134.2:n.3362T>A
NM_000186.4:c.3176T>A MANE Select	NP_000177.2:p.Ile1059Lys