Canonical Allele Identifier: CA343982741

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712585C>A (hg19) ; chr1:g.196743455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743455C>A , CM000663.2:g.196743455C>A	GRCh38
NC_000001.10:g.196712585C>A , CM000663.1:g.196712585C>A	GRCh37
NC_000001.9:g.194979208C>A	NCBI36
NG_007259.1:g.96445C>A , LRG_47:g.96445C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4165C>A
ENST00000695970.1:c.2963C>A	ENSP00000512297.1:p.Thr988Asn
ENST00000695971.1:c.3116C>A	ENSP00000512298.1:p.Thr1039Asn
ENST00000695972.1:c.*214C>A	ENSP00000512299.1:n.*214C>A
ENST00000695973.1:c.*1501C>A	ENSP00000512300.1:n.*1501C>A
ENST00000695974.1:c.2960C>A	ENSP00000512301.1:p.Thr987Asn
ENST00000695975.1:c.*1264C>A	ENSP00000512302.1:n.*1264C>A
ENST00000695976.1:c.2948C>A	ENSP00000512303.1:p.Thr983Asn
ENST00000695981.1:c.3137C>A	ENSP00000512306.1:p.Thr1046Asn
ENST00000695984.1:c.1145C>A	ENSP00000512309.1:p.Thr382Asn
ENST00000695986.1:c.*2788C>A	ENSP00000512311.1:n.*2788C>A
ENST00000696026.1:c.*1419C>A	ENSP00000512335.1:n.*1419C>A
ENST00000696027.1:c.3131C>A	ENSP00000512336.1:p.Thr1044Asn
ENST00000696028.1:c.3065C>A	ENSP00000512337.1:p.Thr1022Asn
ENST00000696029.1:c.3131C>A	ENSP00000512338.1:p.Thr1044Asn
ENST00000696031.1:c.*2655C>A	ENSP00000512340.1:n.*2655C>A
ENST00000696032.1:c.3137C>A	ENSP00000512341.1:p.Thr1046Asn
ENST00000696033.1:c.1160-36342C>A	ENSP00000512342.1:n.1160-36342C>A
ENST00000367429.9:c.3137C>A MANE Select	ENSP00000356399.4:p.Thr1046Asn
ENST00000367429.8:c.3137C>A	ENSP00000356399.4:p.Thr1046Asn
ENST00000466229.5:n.6235C>A
NM_000186.3:c.3137C>A , LRG_47t1:c.3137C>A	NP_000177.2:p.Thr1046Asn
XR_001737134.2:n.3323C>A
NM_000186.4:c.3137C>A MANE Select	NP_000177.2:p.Thr1046Asn