Canonical Allele Identifier: CA3041814

Gene: CFI

Linked Data

• dbSNP Id: rs771229745
• ExAC: 4:110661956 T / TC
• gnomAD v2: 4-110661956-T-TC
• gnomAD v4: 4-109740800-T-TC
• MyVariant Identifiers: chr4:g.110661956_110661957insC (hg19) ; chr4:g.109740800_109740801insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740806dup , CM000666.2:g.109740806dup	GRCh38
NC_000004.11:g.110661962dup , CM000666.1:g.110661962dup	GRCh37
NC_000004.10:g.110881411dup	NCBI36
NG_007569.1:g.66185dup , LRG_48:g.66185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1690dup
ENST00000695845.1:n.1712+1690dup
ENST00000695846.1:n.1868dup
ENST00000394634.7:c.*92dup MANE Select	ENSP00000378130.2:n.*92dup
ENST00000394635.8:c.*92dup	ENSP00000378131.3:n.*92dup
ENST00000645635.1:c.1534+1690dup	ENSP00000493607.1:n.1534+1690dup
ENST00000394634.6:c.*92dup	ENSP00000378130.2:n.*92dup
ENST00000394635.7:c.*92dup	ENSP00000378131.3:n.*92dup
ENST00000504853.3:n.2261dup
ENST00000512148.5:c.*92dup	ENSP00000427438.1:n.*92dup
ENST00000618244.4:c.1049dup
NM_000204.3:c.*92dup , LRG_48t1:c.*92dup	NP_000195.2:n.*92dup
XM_005262975.1:c.*92dup	XP_005263032.1:n.*92dup
XM_005262976.1:c.*92dup	XP_005263033.1:n.*92dup
XM_006714209.1:c.*92dup	XP_006714272.1:n.*92dup
XM_011531920.1:c.1558+1690dup	XP_011530222.1:n.1558+1690dup
NM_000204.4:c.*92dup	NP_000195.2:n.*92dup
NM_001318057.1:c.*92dup	NP_001304986.1:n.*92dup
NM_001331035.1:c.*92dup	NP_001317964.1:n.*92dup
XM_011531920.2:c.1558+1690dup	XP_011530222.1:n.1558+1690dup
XM_017008164.2:c.1534+1690dup	XP_016863653.1:n.1534+1690dup
XM_017008165.2:c.1513+1690dup	XP_016863654.1:n.1513+1690dup
XM_017008166.2:c.1534+1690dup	XP_016863655.1:n.1534+1690dup
NM_001318057.2:c.*92dup	NP_001304986.2:n.*92dup
NM_001331035.2:c.*92dup	NP_001317964.1:n.*92dup
NM_001375278.1:c.1558+1690dup	NP_001362207.1:n.1558+1690dup
NM_001375279.1:c.1534+1690dup	NP_001362208.1:n.1534+1690dup
NM_001375280.1:c.1513+1690dup	NP_001362209.1:n.1513+1690dup
NM_001375281.1:c.1534+1690dup	NP_001362210.1:n.1534+1690dup
NM_001375282.1:c.1513+1690dup	NP_001362211.1:n.1513+1690dup
NM_001375283.1:c.*92dup	NP_001362212.1:n.*92dup
NM_001375284.1:c.*92dup	NP_001362213.1:n.*92dup
NR_164671.1:n.1591dup
NR_164672.1:n.1894dup
NR_164673.1:n.1868dup
NM_000204.5:c.*92dup MANE Select	NP_000195.3:n.*92dup