Canonical Allele Identifier: CA785235457

Gene: CFI

Linked Data

• ClinVar Variation Id: 2734669
• ClinVar RCV Id: RCV003555158
• dbSNP Id: rs1381469349
• gnomAD v3: 4-109757773-AG-A
• gnomAD v4: 4-109757773-AG-A
• MyVariant Identifiers: chr4:g.110678930del (hg19) ; chr4:g.109757774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757774del , CM000666.2:g.109757774del	GRCh38
NC_000004.11:g.110678930del , CM000666.1:g.110678930del	GRCh37
NC_000004.10:g.110898379del	NCBI36
NG_007569.1:g.49212del , LRG_48:g.49212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1072del
ENST00000695845.1:n.1071del
ENST00000695846.1:n.917del
ENST00000394634.7:c.893del MANE Select	ENSP00000378130.2:p.Ser298LeufsTer2
ENST00000394635.8:c.917del	ENSP00000378131.3:p.Ser306LeufsTer2
ENST00000645635.1:c.893del	ENSP00000493607.1:p.Ser298LeufsTer2
ENST00000394634.6:c.893del	ENSP00000378130.2:p.Ser298LeufsTer2
ENST00000394635.7:c.917del	ENSP00000378131.3:p.Ser306LeufsTer2
ENST00000504853.3:n.1310del
ENST00000512148.5:c.883+2496del	ENSP00000427438.1:n.883+2496del
ENST00000618244.4:c.893del	ENSP00000483416.1:p.Ser298LeufsTer2
NM_000204.3:c.893del , LRG_48t1:c.893del	NP_000195.2:p.Ser298LeufsTer10
XM_005262975.1:c.917del	XP_005263032.1:p.Ser306LeufsTer2
XM_005262976.1:c.883+2496del	XP_005263033.1:n.883+2496del
XM_006714209.1:c.914del	XP_006714272.1:p.Ser305LeufsTer2
XM_006714210.2:c.917del	XP_006714273.1:p.Ser306LeufsTer2
XM_011531920.1:c.917del	XP_011530222.1:p.Ser306LeufsTer2
NM_000204.4:c.893del	NP_000195.2:p.Ser298LeufsTer10
NM_001318057.1:c.917del	NP_001304986.1:p.Ser306LeufsTer10
NM_001331035.1:c.883+2496del	NP_001317964.1:n.883+2496del
XM_006714210.4:c.917del	XP_006714273.1:p.Ser306LeufsTer2
XM_011531920.2:c.917del	XP_011530222.1:p.Ser306LeufsTer2
XM_017008164.2:c.893del	XP_016863653.1:p.Ser298LeufsTer2
XM_017008165.2:c.883+2496del	XP_016863654.1:n.883+2496del
XM_017008166.2:c.893del	XP_016863655.1:p.Ser298LeufsTer2
NM_001318057.2:c.917del	NP_001304986.2:p.Ser306LeufsTer2
NM_001331035.2:c.883+2496del	NP_001317964.1:n.883+2496del
NM_001375278.1:c.917del	NP_001362207.1:p.Ser306LeufsTer2
NM_001375279.1:c.893del	NP_001362208.1:p.Ser298LeufsTer2
NM_001375280.1:c.883+2496del	NP_001362209.1:n.883+2496del
NM_001375281.1:c.893del	NP_001362210.1:p.Ser298LeufsTer2
NM_001375282.1:c.883+2496del	NP_001362211.1:n.883+2496del
NM_001375283.1:c.883+2496del	NP_001362212.1:n.883+2496del
NM_001375284.1:c.284del	NP_001362213.1:p.Ser95LeufsTer2
NR_164671.1:n.921del
NR_164672.1:n.945del
NR_164673.1:n.921del
NM_000204.5:c.893del MANE Select	NP_000195.3:p.Ser298LeufsTer2