Canonical Allele Identifier: CA785224452

Gene: CFI

Linked Data

• dbSNP Id: rs1306959141
• MyVariant Identifiers: chr4:g.110661890_110661891insAAAG (hg19) ; chr4:g.109740734_109740735insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740736_109740737insAGAA , CM000666.2:g.109740736_109740737insAGAA	GRCh38
NC_000004.11:g.110661892_110661893insAGAA , CM000666.1:g.110661892_110661893insAGAA	GRCh37
NC_000004.10:g.110881341_110881342insAGAA	NCBI36
NG_007569.1:g.66251_66252insCTTT , LRG_48:g.66251_66252insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1756_1713+1757insCTTT
ENST00000695845.1:n.1712+1756_1712+1757insCTTT
ENST00000695846.1:n.1934_1935insCTTT
ENST00000394634.7:c.*158_*159insCTTT MANE Select	ENSP00000378130.2:n.*158_*159insCTTT
ENST00000394635.8:c.*158_*159insCTTT	ENSP00000378131.3:n.*158_*159insCTTT
ENST00000645635.1:c.1534+1756_1534+1757insCTTT	ENSP00000493607.1:n.1534+1756_1534+1757insCTTT
ENST00000394634.6:c.*158_*159insCTTT	ENSP00000378130.2:n.*158_*159insCTTT
ENST00000394635.7:c.*158_*159insCTTT	ENSP00000378131.3:n.*158_*159insCTTT
ENST00000504853.3:n.2327_2328insCTTT
ENST00000512148.5:c.*158_*159insCTTT	ENSP00000427438.1:n.*158_*159insCTTT
ENST00000618244.4:c.1115_1116insCTTT	ENSP00000483416.1:p.Cys373PhefsTer?
NM_000204.3:c.*158_*159insCTTT , LRG_48t1:c.*158_*159insCTTT	NP_000195.2:n.*158_*159insCTTT
XM_005262975.1:c.*158_*159insCTTT	XP_005263032.1:n.*158_*159insCTTT
XM_005262976.1:c.*158_*159insCTTT	XP_005263033.1:n.*158_*159insCTTT
XM_006714209.1:c.*158_*159insCTTT	XP_006714272.1:n.*158_*159insCTTT
XM_011531920.1:c.1558+1756_1558+1757insCTTT	XP_011530222.1:n.1558+1756_1558+1757insCTTT
NM_000204.4:c.*158_*159insCTTT	NP_000195.2:n.*158_*159insCTTT
NM_001318057.1:c.*158_*159insCTTT	NP_001304986.1:n.*158_*159insCTTT
NM_001331035.1:c.*158_*159insCTTT	NP_001317964.1:n.*158_*159insCTTT
XM_011531920.2:c.1558+1756_1558+1757insCTTT	XP_011530222.1:n.1558+1756_1558+1757insCTTT
XM_017008164.2:c.1534+1756_1534+1757insCTTT	XP_016863653.1:n.1534+1756_1534+1757insCTTT
XM_017008165.2:c.1513+1756_1513+1757insCTTT	XP_016863654.1:n.1513+1756_1513+1757insCTTT
XM_017008166.2:c.1534+1756_1534+1757insCTTT	XP_016863655.1:n.1534+1756_1534+1757insCTTT
NM_001318057.2:c.*158_*159insCTTT	NP_001304986.2:n.*158_*159insCTTT
NM_001331035.2:c.*158_*159insCTTT	NP_001317964.1:n.*158_*159insCTTT
NM_001375278.1:c.1558+1756_1558+1757insCTTT	NP_001362207.1:n.1558+1756_1558+1757insCTTT
NM_001375279.1:c.1534+1756_1534+1757insCTTT	NP_001362208.1:n.1534+1756_1534+1757insCTTT
NM_001375280.1:c.1513+1756_1513+1757insCTTT	NP_001362209.1:n.1513+1756_1513+1757insCTTT
NM_001375281.1:c.1534+1756_1534+1757insCTTT	NP_001362210.1:n.1534+1756_1534+1757insCTTT
NM_001375282.1:c.1513+1756_1513+1757insCTTT	NP_001362211.1:n.1513+1756_1513+1757insCTTT
NM_001375283.1:c.*158_*159insCTTT	NP_001362212.1:n.*158_*159insCTTT
NM_001375284.1:c.*158_*159insCTTT	NP_001362213.1:n.*158_*159insCTTT
NR_164671.1:n.1657_1658insCTTT
NR_164672.1:n.1960_1961insCTTT
NR_164673.1:n.1934_1935insCTTT
NM_000204.5:c.*158_*159insCTTT MANE Select	NP_000195.3:n.*158_*159insCTTT