Canonical Allele Identifier: CA785224577

Gene: CFI

Linked Data

• dbSNP Id: rs1479654780
• gnomAD v3: 4-109740806-CT-C
• gnomAD v4: 4-109740806-CT-C
• MyVariant Identifiers: chr4:g.110661963del (hg19) ; chr4:g.109740807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740807del , CM000666.2:g.109740807del	GRCh38
NC_000004.11:g.110661963del , CM000666.1:g.110661963del	GRCh37
NC_000004.10:g.110881412del	NCBI36
NG_007569.1:g.66179del , LRG_48:g.66179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1684del
ENST00000695845.1:n.1712+1684del
ENST00000695846.1:n.1862del
ENST00000394634.7:c.*86del MANE Select	ENSP00000378130.2:n.*86del
ENST00000394635.8:c.*86del	ENSP00000378131.3:n.*86del
ENST00000645635.1:c.1534+1684del	ENSP00000493607.1:n.1534+1684del
ENST00000394634.6:c.*86del	ENSP00000378130.2:n.*86del
ENST00000394635.7:c.*86del	ENSP00000378131.3:n.*86del
ENST00000504853.3:n.2255del
ENST00000512148.5:c.*86del	ENSP00000427438.1:n.*86del
ENST00000618244.4:c.1045-2del	ENSP00000483416.1:n.1045-2del
NM_000204.3:c.*86del , LRG_48t1:c.*86del	NP_000195.2:n.*86del
XM_005262975.1:c.*86del	XP_005263032.1:n.*86del
XM_005262976.1:c.*86del	XP_005263033.1:n.*86del
XM_006714209.1:c.*86del	XP_006714272.1:n.*86del
XM_011531920.1:c.1558+1684del	XP_011530222.1:n.1558+1684del
NM_000204.4:c.*86del	NP_000195.2:n.*86del
NM_001318057.1:c.*86del	NP_001304986.1:n.*86del
NM_001331035.1:c.*86del	NP_001317964.1:n.*86del
XM_011531920.2:c.1558+1684del	XP_011530222.1:n.1558+1684del
XM_017008164.2:c.1534+1684del	XP_016863653.1:n.1534+1684del
XM_017008165.2:c.1513+1684del	XP_016863654.1:n.1513+1684del
XM_017008166.2:c.1534+1684del	XP_016863655.1:n.1534+1684del
NM_001318057.2:c.*86del	NP_001304986.2:n.*86del
NM_001331035.2:c.*86del	NP_001317964.1:n.*86del
NM_001375278.1:c.1558+1684del	NP_001362207.1:n.1558+1684del
NM_001375279.1:c.1534+1684del	NP_001362208.1:n.1534+1684del
NM_001375280.1:c.1513+1684del	NP_001362209.1:n.1513+1684del
NM_001375281.1:c.1534+1684del	NP_001362210.1:n.1534+1684del
NM_001375282.1:c.1513+1684del	NP_001362211.1:n.1513+1684del
NM_001375283.1:c.*86del	NP_001362212.1:n.*86del
NM_001375284.1:c.*86del	NP_001362213.1:n.*86del
NR_164671.1:n.1585del
NR_164672.1:n.1888del
NR_164673.1:n.1862del
NM_000204.5:c.*86del MANE Select	NP_000195.3:n.*86del