Canonical Allele Identifier: CA343982743

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4165C>G
ENST00000695970.1:c.2963C>G	ENSP00000512297.1:p.Thr988Ser
ENST00000695971.1:c.3116C>G	ENSP00000512298.1:p.Thr1039Ser
ENST00000695972.1:c.*214C>G	ENSP00000512299.1:n.*214C>G
ENST00000695973.1:c.*1501C>G	ENSP00000512300.1:n.*1501C>G
ENST00000695974.1:c.2960C>G	ENSP00000512301.1:p.Thr987Ser
ENST00000695975.1:c.*1264C>G	ENSP00000512302.1:n.*1264C>G
ENST00000695976.1:c.2948C>G	ENSP00000512303.1:p.Thr983Ser
ENST00000695981.1:c.3137C>G	ENSP00000512306.1:p.Thr1046Ser
ENST00000695984.1:c.1145C>G	ENSP00000512309.1:p.Thr382Ser
ENST00000695986.1:c.*2788C>G	ENSP00000512311.1:n.*2788C>G
ENST00000696026.1:c.*1419C>G	ENSP00000512335.1:n.*1419C>G
ENST00000696027.1:c.3131C>G	ENSP00000512336.1:p.Thr1044Ser
ENST00000696028.1:c.3065C>G	ENSP00000512337.1:p.Thr1022Ser
ENST00000696029.1:c.3131C>G	ENSP00000512338.1:p.Thr1044Ser
ENST00000696031.1:c.*2655C>G	ENSP00000512340.1:n.*2655C>G
ENST00000696032.1:c.3137C>G	ENSP00000512341.1:p.Thr1046Ser
ENST00000696033.1:c.1160-36342C>G	ENSP00000512342.1:n.1160-36342C>G
ENST00000367429.9:c.3137C>G MANE Select	ENSP00000356399.4:p.Thr1046Ser
ENST00000367429.8:c.3137C>G	ENSP00000356399.4:p.Thr1046Ser
ENST00000466229.5:n.6235C>G
NM_000186.3:c.3137C>G , LRG_47t1:c.3137C>G	NP_000177.2:p.Thr1046Ser
XR_001737134.2:n.3323C>G
NM_000186.4:c.3137C>G MANE Select	NP_000177.2:p.Thr1046Ser