Canonical Allele Identifier: CA3041931

Gene: CFI

Linked Data

• ClinVar Variation Id: 2057218
• ClinVar RCV Id: RCV002914806
• dbSNP Id: rs750018382
• ExAC: 4:110667453 C / T
• gnomAD v2: 4-110667453-C-T
• gnomAD v4: 4-109746297-C-T
• MyVariant Identifiers: chr4:g.110667453C>T (hg19) ; chr4:g.109746297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746297C>T , CM000666.2:g.109746297C>T	GRCh38
NC_000004.11:g.110667453C>T , CM000666.1:g.110667453C>T	GRCh37
NC_000004.10:g.110886902C>T	NCBI36
NG_007569.1:g.60689G>A , LRG_48:g.60689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1533G>A
ENST00000695845.1:n.1532G>A
ENST00000695846.1:n.1378G>A
ENST00000394634.7:c.1354G>A MANE Select	ENSP00000378130.2:p.Ala452Thr
ENST00000394635.8:c.1378G>A	ENSP00000378131.3:p.Ala460Thr
ENST00000645635.1:c.1354G>A	ENSP00000493607.1:p.Ala452Thr
ENST00000394634.6:c.1354G>A	ENSP00000378130.2:p.Ala452Thr
ENST00000394635.7:c.1378G>A	ENSP00000378131.3:p.Ala460Thr
ENST00000504853.3:n.1771G>A
ENST00000512148.5:c.1333G>A	ENSP00000427438.1:p.Ala445Thr
ENST00000618244.4:c.1044+3202G>A	ENSP00000483416.1:n.1044+3202G>A
NM_000204.3:c.1354G>A , LRG_48t1:c.1354G>A	NP_000195.2:p.Ala452Thr
XM_005262975.1:c.1378G>A	XP_005263032.1:p.Ala460Thr
XM_005262976.1:c.1333G>A	XP_005263033.1:p.Ala445Thr
XM_006714209.1:c.1375G>A	XP_006714272.1:p.Ala459Thr
XM_006714210.2:c.1378G>A	XP_006714273.1:p.Ala460Thr
XM_011531920.1:c.1378G>A	XP_011530222.1:p.Ala460Thr
NM_000204.4:c.1354G>A	NP_000195.2:p.Ala452Thr
NM_001318057.1:c.1378G>A	NP_001304986.1:p.Ala460Thr
NM_001331035.1:c.1333G>A	NP_001317964.1:p.Ala445Thr
XM_006714210.4:c.1378G>A	XP_006714273.1:p.Ala460Thr
XM_011531920.2:c.1378G>A	XP_011530222.1:p.Ala460Thr
XM_017008164.2:c.1354G>A	XP_016863653.1:p.Ala452Thr
XM_017008165.2:c.1333G>A	XP_016863654.1:p.Ala445Thr
XM_017008166.2:c.1354G>A	XP_016863655.1:p.Ala452Thr
NM_001318057.2:c.1378G>A	NP_001304986.2:p.Ala460Thr
NM_001331035.2:c.1333G>A	NP_001317964.1:p.Ala445Thr
NM_001375278.1:c.1378G>A	NP_001362207.1:p.Ala460Thr
NM_001375279.1:c.1354G>A	NP_001362208.1:p.Ala452Thr
NM_001375280.1:c.1333G>A	NP_001362209.1:p.Ala445Thr
NM_001375281.1:c.1354G>A	NP_001362210.1:p.Ala452Thr
NM_001375282.1:c.1333G>A	NP_001362211.1:p.Ala445Thr
NM_001375283.1:c.1297G>A	NP_001362212.1:p.Ala433Thr
NM_001375284.1:c.745G>A	NP_001362213.1:p.Ala249Thr
NR_164671.1:n.1176+2921G>A
NR_164672.1:n.1404G>A
NR_164673.1:n.1378G>A
NM_000204.5:c.1354G>A MANE Select	NP_000195.3:p.Ala452Thr