Canonical Allele Identifier: CA357854234

Gene: CFI

Linked Data

• MyVariant Identifiers: chr4:g.110662096T>A (hg19) ; chr4:g.109740940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740940T>A , CM000666.2:g.109740940T>A	GRCh38
NC_000004.11:g.110662096T>A , CM000666.1:g.110662096T>A	GRCh37
NC_000004.10:g.110881545T>A	NCBI36
NG_007569.1:g.66046A>T , LRG_48:g.66046A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1551A>T
ENST00000695845.1:n.1712+1551A>T
ENST00000695846.1:n.1729A>T
ENST00000394634.7:c.1705A>T MANE Select	ENSP00000378130.2:p.Ile569Phe
ENST00000394635.8:c.1729A>T	ENSP00000378131.3:p.Ile577Phe
ENST00000645635.1:c.1534+1551A>T	ENSP00000493607.1:n.1534+1551A>T
ENST00000394634.6:c.1705A>T	ENSP00000378130.2:p.Ile569Phe
ENST00000394635.7:c.1729A>T	ENSP00000378131.3:p.Ile577Phe
ENST00000504853.3:n.2122A>T
ENST00000512148.5:c.1684A>T	ENSP00000427438.1:p.Ile562Phe
ENST00000618244.4:c.1045-135A>T	ENSP00000483416.1:n.1045-135A>T
NM_000204.3:c.1705A>T , LRG_48t1:c.1705A>T	NP_000195.2:p.Ile569Phe
XM_005262975.1:c.1729A>T	XP_005263032.1:p.Ile577Phe
XM_005262976.1:c.1684A>T	XP_005263033.1:p.Ile562Phe
XM_006714209.1:c.1726A>T	XP_006714272.1:p.Ile576Phe
XM_011531920.1:c.1558+1551A>T	XP_011530222.1:n.1558+1551A>T
NM_000204.4:c.1705A>T	NP_000195.2:p.Ile569Phe
NM_001318057.1:c.1729A>T	NP_001304986.1:p.Ile577Phe
NM_001331035.1:c.1684A>T	NP_001317964.1:p.Ile562Phe
XM_011531920.2:c.1558+1551A>T	XP_011530222.1:n.1558+1551A>T
XM_017008164.2:c.1534+1551A>T	XP_016863653.1:n.1534+1551A>T
XM_017008165.2:c.1513+1551A>T	XP_016863654.1:n.1513+1551A>T
XM_017008166.2:c.1534+1551A>T	XP_016863655.1:n.1534+1551A>T
NM_001318057.2:c.1729A>T	NP_001304986.2:p.Ile577Phe
NM_001331035.2:c.1684A>T	NP_001317964.1:p.Ile562Phe
NM_001375278.1:c.1558+1551A>T	NP_001362207.1:n.1558+1551A>T
NM_001375279.1:c.1534+1551A>T	NP_001362208.1:n.1534+1551A>T
NM_001375280.1:c.1513+1551A>T	NP_001362209.1:n.1513+1551A>T
NM_001375281.1:c.1534+1551A>T	NP_001362210.1:n.1534+1551A>T
NM_001375282.1:c.1513+1551A>T	NP_001362211.1:n.1513+1551A>T
NM_001375283.1:c.1648A>T	NP_001362212.1:p.Ile550Phe
NM_001375284.1:c.1096A>T	NP_001362213.1:p.Ile366Phe
NR_164671.1:n.1452A>T
NR_164672.1:n.1755A>T
NR_164673.1:n.1729A>T
NM_000204.5:c.1705A>T MANE Select	NP_000195.3:p.Ile569Phe