Canonical Allele Identifier: CA3041846

Gene: CFI

Linked Data

• ClinVar Variation Id: 1163253
• ClinVar RCV Id: RCV001508159
• dbSNP Id: rs774728696
• ExAC: 4:110662149 CCA / C
• gnomAD v2: 4-110662149-CCA-C
• gnomAD v3: 4-109740993-CCA-C
• gnomAD v4: 4-109740993-CCA-C
• MyVariant Identifiers: chr4:g.110662150_110662151del (hg19) ; chr4:g.109740994_109740995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740996_109740997del , CM000666.2:g.109740996_109740997del	GRCh38
NC_000004.11:g.110662152_110662153del , CM000666.1:g.110662152_110662153del	GRCh37
NC_000004.10:g.110881601_110881602del	NCBI36
NG_007569.1:g.65991_65992del , LRG_48:g.65991_65992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1496_1713+1497del
ENST00000695845.1:n.1712+1496_1712+1497del
ENST00000695846.1:n.1674_1675del
ENST00000394634.7:c.1650_1651del MANE Select	ENSP00000378130.2:p.Cys550TrpfsTer17
ENST00000394635.8:c.1674_1675del	ENSP00000378131.3:p.Cys558TrpfsTer17
ENST00000645635.1:c.1534+1496_1534+1497del	ENSP00000493607.1:n.1534+1496_1534+1497del
ENST00000394634.6:c.1650_1651del	ENSP00000378130.2:p.Cys550TrpfsTer17
ENST00000394635.7:c.1674_1675del	ENSP00000378131.3:p.Cys558TrpfsTer17
ENST00000504853.3:n.2067_2068del
ENST00000512148.5:c.1629_1630del	ENSP00000427438.1:p.Cys543TrpfsTer17
ENST00000618244.4:c.1045-190_1045-189del	ENSP00000483416.1:n.1045-190_1045-189del
NM_000204.3:c.1650_1651del , LRG_48t1:c.1650_1651del	NP_000195.2:p.Cys550TrpfsTer17
XM_005262975.1:c.1674_1675del	XP_005263032.1:p.Cys558TrpfsTer17
XM_005262976.1:c.1629_1630del	XP_005263033.1:p.Cys543TrpfsTer17
XM_006714209.1:c.1671_1672del	XP_006714272.1:p.Cys557TrpfsTer17
XM_011531920.1:c.1558+1496_1558+1497del	XP_011530222.1:n.1558+1496_1558+1497del
NM_000204.4:c.1650_1651del	NP_000195.2:p.Cys550TrpfsTer17
NM_001318057.1:c.1674_1675del	NP_001304986.1:p.Cys558TrpfsTer17
NM_001331035.1:c.1629_1630del	NP_001317964.1:p.Cys543TrpfsTer17
XM_011531920.2:c.1558+1496_1558+1497del	XP_011530222.1:n.1558+1496_1558+1497del
XM_017008164.2:c.1534+1496_1534+1497del	XP_016863653.1:n.1534+1496_1534+1497del
XM_017008165.2:c.1513+1496_1513+1497del	XP_016863654.1:n.1513+1496_1513+1497del
XM_017008166.2:c.1534+1496_1534+1497del	XP_016863655.1:n.1534+1496_1534+1497del
NM_001318057.2:c.1674_1675del	NP_001304986.2:p.Cys558TrpfsTer17
NM_001331035.2:c.1629_1630del	NP_001317964.1:p.Cys543TrpfsTer17
NM_001375278.1:c.1558+1496_1558+1497del	NP_001362207.1:n.1558+1496_1558+1497del
NM_001375279.1:c.1534+1496_1534+1497del	NP_001362208.1:n.1534+1496_1534+1497del
NM_001375280.1:c.1513+1496_1513+1497del	NP_001362209.1:n.1513+1496_1513+1497del
NM_001375281.1:c.1534+1496_1534+1497del	NP_001362210.1:n.1534+1496_1534+1497del
NM_001375282.1:c.1513+1496_1513+1497del	NP_001362211.1:n.1513+1496_1513+1497del
NM_001375283.1:c.1593_1594del	NP_001362212.1:p.Cys531TrpfsTer17
NM_001375284.1:c.1041_1042del	NP_001362213.1:p.Cys347TrpfsTer17
NR_164671.1:n.1397_1398del
NR_164672.1:n.1700_1701del
NR_164673.1:n.1674_1675del
NM_000204.5:c.1650_1651del MANE Select	NP_000195.3:p.Cys550TrpfsTer17