Canonical Allele Identifier: CA2671743414

Gene: CFI

Linked Data

• gnomAD v4: 4-109757769-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757770dup , CM000666.2:g.109757770dup	GRCh38
NC_000004.11:g.110678926dup , CM000666.1:g.110678926dup	GRCh37
NC_000004.10:g.110898375dup	NCBI36
NG_007569.1:g.49216dup , LRG_48:g.49216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1076dup
ENST00000695845.1:n.1075dup
ENST00000695846.1:n.921dup
ENST00000394634.7:c.897dup MANE Select	ENSP00000378130.2:p.Thr300AspfsTer11
ENST00000394635.8:c.921dup	ENSP00000378131.3:p.Thr308AspfsTer11
ENST00000645635.1:c.897dup	ENSP00000493607.1:p.Thr300AspfsTer11
ENST00000394634.6:c.897dup	ENSP00000378130.2:p.Thr300AspfsTer11
ENST00000394635.7:c.921dup	ENSP00000378131.3:p.Thr308AspfsTer11
ENST00000504853.3:n.1314dup
ENST00000512148.5:c.883+2500dup	ENSP00000427438.1:n.883+2500dup
ENST00000618244.4:c.897dup	ENSP00000483416.1:p.Thr300AspfsTer11
NM_000204.3:c.897dup , LRG_48t1:c.897dup	NP_000195.2:p.Ala300GlyfsTer11
XM_005262975.1:c.921dup	XP_005263032.1:p.Thr308AspfsTer11
XM_005262976.1:c.883+2500dup	XP_005263033.1:n.883+2500dup
XM_006714209.1:c.918dup	XP_006714272.1:p.Thr307AspfsTer11
XM_006714210.2:c.921dup	XP_006714273.1:p.Thr308AspfsTer11
XM_011531920.1:c.921dup	XP_011530222.1:p.Thr308AspfsTer11
NM_000204.4:c.897dup	NP_000195.2:p.Ala300GlyfsTer11
NM_001318057.1:c.921dup	NP_001304986.1:p.Ala308GlyfsTer11
NM_001331035.1:c.883+2500dup	NP_001317964.1:n.883+2500dup
XM_006714210.4:c.921dup	XP_006714273.1:p.Thr308AspfsTer11
XM_011531920.2:c.921dup	XP_011530222.1:p.Thr308AspfsTer11
XM_017008164.2:c.897dup	XP_016863653.1:p.Thr300AspfsTer11
XM_017008165.2:c.883+2500dup	XP_016863654.1:n.883+2500dup
XM_017008166.2:c.897dup	XP_016863655.1:p.Thr300AspfsTer11
NM_001318057.2:c.921dup	NP_001304986.2:p.Thr308AspfsTer11
NM_001331035.2:c.883+2500dup	NP_001317964.1:n.883+2500dup
NM_001375278.1:c.921dup	NP_001362207.1:p.Thr308AspfsTer11
NM_001375279.1:c.897dup	NP_001362208.1:p.Thr300AspfsTer11
NM_001375280.1:c.883+2500dup	NP_001362209.1:n.883+2500dup
NM_001375281.1:c.897dup	NP_001362210.1:p.Thr300AspfsTer11
NM_001375282.1:c.883+2500dup	NP_001362211.1:n.883+2500dup
NM_001375283.1:c.883+2500dup	NP_001362212.1:n.883+2500dup
NM_001375284.1:c.288dup	NP_001362213.1:p.Thr97AspfsTer11
NR_164671.1:n.925dup
NR_164672.1:n.949dup
NR_164673.1:n.925dup
NM_000204.5:c.897dup MANE Select	NP_000195.3:p.Thr300AspfsTer11