Canonical Allele Identifier: CA554050592

Gene: CFI

Linked Data

• dbSNP Id: rs1227020199
• gnomAD v2: 4-110662234-CT-C
• gnomAD v3: 4-109741078-CT-C
• gnomAD v4: 4-109741078-CT-C
• MyVariant Identifiers: chr4:g.110662235del (hg19) ; chr4:g.109741079del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741081del , CM000666.2:g.109741081del	GRCh38
NC_000004.11:g.110662237del , CM000666.1:g.110662237del	GRCh37
NC_000004.10:g.110881686del	NCBI36
NG_007569.1:g.65907del , LRG_48:g.65907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1412del
ENST00000695845.1:n.1712+1412del
ENST00000695846.1:n.1590del
ENST00000394634.7:c.1566del MANE Select	ENSP00000378130.2:p.Asp524ThrfsTer6
ENST00000394635.8:c.1590del	ENSP00000378131.3:p.Asp532ThrfsTer6
ENST00000645635.1:c.1534+1412del	ENSP00000493607.1:n.1534+1412del
ENST00000394634.6:c.1566del	ENSP00000378130.2:p.Asp524ThrfsTer6
ENST00000394635.7:c.1590del	ENSP00000378131.3:p.Asp532ThrfsTer6
ENST00000504853.3:n.1983del
ENST00000512148.5:c.1545del	ENSP00000427438.1:p.Asp517ThrfsTer6
ENST00000618244.4:c.1045-274del	ENSP00000483416.1:n.1045-274del
NM_000204.3:c.1566del , LRG_48t1:c.1566del	NP_000195.2:p.Asp524ThrfsTer6
XM_005262975.1:c.1590del	XP_005263032.1:p.Asp532ThrfsTer6
XM_005262976.1:c.1545del	XP_005263033.1:p.Asp517ThrfsTer6
XM_006714209.1:c.1587del	XP_006714272.1:p.Asp531ThrfsTer6
XM_011531920.1:c.1558+1412del	XP_011530222.1:n.1558+1412del
NM_000204.4:c.1566del	NP_000195.2:p.Asp524ThrfsTer6
NM_001318057.1:c.1590del	NP_001304986.1:p.Asp532ThrfsTer6
NM_001331035.1:c.1545del	NP_001317964.1:p.Asp517ThrfsTer6
XM_011531920.2:c.1558+1412del	XP_011530222.1:n.1558+1412del
XM_017008164.2:c.1534+1412del	XP_016863653.1:n.1534+1412del
XM_017008165.2:c.1513+1412del	XP_016863654.1:n.1513+1412del
XM_017008166.2:c.1534+1412del	XP_016863655.1:n.1534+1412del
NM_001318057.2:c.1590del	NP_001304986.2:p.Asp532ThrfsTer6
NM_001331035.2:c.1545del	NP_001317964.1:p.Asp517ThrfsTer6
NM_001375278.1:c.1558+1412del	NP_001362207.1:n.1558+1412del
NM_001375279.1:c.1534+1412del	NP_001362208.1:n.1534+1412del
NM_001375280.1:c.1513+1412del	NP_001362209.1:n.1513+1412del
NM_001375281.1:c.1534+1412del	NP_001362210.1:n.1534+1412del
NM_001375282.1:c.1513+1412del	NP_001362211.1:n.1513+1412del
NM_001375283.1:c.1509del	NP_001362212.1:p.Asp505ThrfsTer6
NM_001375284.1:c.957del	NP_001362213.1:p.Asp321ThrfsTer6
NR_164671.1:n.1313del
NR_164672.1:n.1616del
NR_164673.1:n.1590del
NM_000204.5:c.1566del MANE Select	NP_000195.3:p.Asp524ThrfsTer6