Canonical Allele Identifier: CA357856568

Gene: CFI

Linked Data

• MyVariant Identifiers: chr4:g.110667390C>A (hg19) ; chr4:g.109746234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746234C>A , CM000666.2:g.109746234C>A	GRCh38
NC_000004.11:g.110667390C>A , CM000666.1:g.110667390C>A	GRCh37
NC_000004.10:g.110886839C>A	NCBI36
NG_007569.1:g.60752G>T , LRG_48:g.60752G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.1596G>T
ENST00000695845.1:n.1595G>T
ENST00000695846.1:n.1441G>T
ENST00000394634.7:c.1417G>T MANE Select	ENSP00000378130.2:p.Gly473Ter
ENST00000394635.8:c.1441G>T	ENSP00000378131.3:p.Gly481Ter
ENST00000645635.1:c.1417G>T	ENSP00000493607.1:p.Gly473Ter
ENST00000394634.6:c.1417G>T	ENSP00000378130.2:p.Gly473Ter
ENST00000394635.7:c.1441G>T	ENSP00000378131.3:p.Gly481Ter
ENST00000504853.3:n.1834G>T
ENST00000512148.5:c.1396G>T	ENSP00000427438.1:p.Gly466Ter
ENST00000515512.1:n.59G>T
ENST00000618244.4:c.1044+3265G>T	ENSP00000483416.1:n.1044+3265G>T
NM_000204.3:c.1417G>T , LRG_48t1:c.1417G>T	NP_000195.2:p.Gly473Ter
XM_005262975.1:c.1441G>T	XP_005263032.1:p.Gly481Ter
XM_005262976.1:c.1396G>T	XP_005263033.1:p.Gly466Ter
XM_006714209.1:c.1438G>T	XP_006714272.1:p.Gly480Ter
XM_006714210.2:c.1441G>T	XP_006714273.1:p.Gly481Ter
XM_011531920.1:c.1441G>T	XP_011530222.1:p.Gly481Ter
NM_000204.4:c.1417G>T	NP_000195.2:p.Gly473Ter
NM_001318057.1:c.1441G>T	NP_001304986.1:p.Gly481Ter
NM_001331035.1:c.1396G>T	NP_001317964.1:p.Gly466Ter
XM_006714210.4:c.1441G>T	XP_006714273.1:p.Gly481Ter
XM_011531920.2:c.1441G>T	XP_011530222.1:p.Gly481Ter
XM_017008164.2:c.1417G>T	XP_016863653.1:p.Gly473Ter
XM_017008165.2:c.1396G>T	XP_016863654.1:p.Gly466Ter
XM_017008166.2:c.1417G>T	XP_016863655.1:p.Gly473Ter
NM_001318057.2:c.1441G>T	NP_001304986.2:p.Gly481Ter
NM_001331035.2:c.1396G>T	NP_001317964.1:p.Gly466Ter
NM_001375278.1:c.1441G>T	NP_001362207.1:p.Gly481Ter
NM_001375279.1:c.1417G>T	NP_001362208.1:p.Gly473Ter
NM_001375280.1:c.1396G>T	NP_001362209.1:p.Gly466Ter
NM_001375281.1:c.1417G>T	NP_001362210.1:p.Gly473Ter
NM_001375282.1:c.1396G>T	NP_001362211.1:p.Gly466Ter
NM_001375283.1:c.1360G>T	NP_001362212.1:p.Gly454Ter
NM_001375284.1:c.808G>T	NP_001362213.1:p.Gly270Ter
NR_164671.1:n.1176+2984G>T
NR_164672.1:n.1467G>T
NR_164673.1:n.1441G>T
NM_000204.5:c.1417G>T MANE Select	NP_000195.3:p.Gly473Ter