Canonical Allele Identifier: CA440585497

Gene: CFI

Linked Data

• gnomAD v4: 4-109749594-G-T
• MyVariant Identifiers: chr4:g.110670750G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109749594G>T , CM000666.2:g.109749594G>T	GRCh38
NC_000004.11:g.110670750G>T , CM000666.1:g.110670750G>T	GRCh37
NC_000004.10:g.110890199G>T	NCBI36
NG_007569.1:g.57392C>A , LRG_48:g.57392C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.1128C>A
ENST00000695845.1:n.1127C>A
ENST00000695846.1:n.973C>A
ENST00000394634.7:c.949C>A MANE Select	ENSP00000378130.2:p.Arg317=
ENST00000394635.8:c.973C>A	ENSP00000378131.3:p.Arg325=
ENST00000645635.1:c.949C>A	ENSP00000493607.1:p.Arg317=
ENST00000394634.6:c.949C>A	ENSP00000378130.2:p.Arg317=
ENST00000394635.7:c.973C>A	ENSP00000378131.3:p.Arg325=
ENST00000504853.3:n.1366C>A
ENST00000512148.5:c.928C>A	ENSP00000427438.1:p.Arg310=
ENST00000618244.4:c.949C>A	ENSP00000483416.1:p.Arg317=
NM_000204.3:c.949C>A , LRG_48t1:c.949C>A	NP_000195.2:p.Arg317=
XM_005262975.1:c.973C>A	XP_005263032.1:p.Arg325=
XM_005262976.1:c.928C>A	XP_005263033.1:p.Arg310=
XM_006714209.1:c.970C>A	XP_006714272.1:p.Arg324=
XM_006714210.2:c.973C>A	XP_006714273.1:p.Arg325=
XM_011531920.1:c.973C>A	XP_011530222.1:p.Arg325=
NM_000204.4:c.949C>A	NP_000195.2:p.Arg317=
NM_001318057.1:c.973C>A	NP_001304986.1:p.Arg325=
NM_001331035.1:c.928C>A	NP_001317964.1:p.Arg310=
XM_006714210.4:c.973C>A	XP_006714273.1:p.Arg325=
XM_011531920.2:c.973C>A	XP_011530222.1:p.Arg325=
XM_017008164.2:c.949C>A	XP_016863653.1:p.Arg317=
XM_017008165.2:c.928C>A	XP_016863654.1:p.Arg310=
XM_017008166.2:c.949C>A	XP_016863655.1:p.Arg317=
NM_001318057.2:c.973C>A	NP_001304986.2:p.Arg325=
NM_001331035.2:c.928C>A	NP_001317964.1:p.Arg310=
NM_001375278.1:c.973C>A	NP_001362207.1:p.Arg325=
NM_001375279.1:c.949C>A	NP_001362208.1:p.Arg317=
NM_001375280.1:c.928C>A	NP_001362209.1:p.Arg310=
NM_001375281.1:c.949C>A	NP_001362210.1:p.Arg317=
NM_001375282.1:c.928C>A	NP_001362211.1:p.Arg310=
NM_001375283.1:c.892C>A	NP_001362212.1:p.Arg298=
NM_001375284.1:c.340C>A	NP_001362213.1:p.Arg114=
NR_164671.1:n.977C>A
NR_164672.1:n.1001C>A
NR_164673.1:n.977C>A
NM_000204.5:c.949C>A MANE Select	NP_000195.3:p.Arg317=