Canonical Allele Identifier: CA3041860

Gene: CFI

Linked Data

• dbSNP Id: rs752801286
• ExAC: 4:110662250 G / A
• gnomAD v2: 4-110662250-G-A
• gnomAD v4: 4-109741094-G-A
• MyVariant Identifiers: chr4:g.110662250G>A (hg19) ; chr4:g.109741094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741094G>A , CM000666.2:g.109741094G>A	GRCh38
NC_000004.11:g.110662250G>A , CM000666.1:g.110662250G>A	GRCh37
NC_000004.10:g.110881699G>A	NCBI36
NG_007569.1:g.65892C>T , LRG_48:g.65892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1397C>T
ENST00000695845.1:n.1712+1397C>T
ENST00000695846.1:n.1575C>T
ENST00000394634.7:c.1551C>T MANE Select	ENSP00000378130.2:p.Ser517=
ENST00000394635.8:c.1575C>T	ENSP00000378131.3:p.Ser525=
ENST00000645635.1:c.1534+1397C>T	ENSP00000493607.1:n.1534+1397C>T
ENST00000394634.6:c.1551C>T	ENSP00000378130.2:p.Ser517=
ENST00000394635.7:c.1575C>T	ENSP00000378131.3:p.Ser525=
ENST00000504853.3:n.1968C>T
ENST00000512148.5:c.1530C>T	ENSP00000427438.1:p.Ser510=
ENST00000618244.4:c.1045-289C>T	ENSP00000483416.1:n.1045-289C>T
NM_000204.3:c.1551C>T , LRG_48t1:c.1551C>T	NP_000195.2:p.Ser517=
XM_005262975.1:c.1575C>T	XP_005263032.1:p.Ser525=
XM_005262976.1:c.1530C>T	XP_005263033.1:p.Ser510=
XM_006714209.1:c.1572C>T	XP_006714272.1:p.Ser524=
XM_011531920.1:c.1558+1397C>T	XP_011530222.1:n.1558+1397C>T
NM_000204.4:c.1551C>T	NP_000195.2:p.Ser517=
NM_001318057.1:c.1575C>T	NP_001304986.1:p.Ser525=
NM_001331035.1:c.1530C>T	NP_001317964.1:p.Ser510=
XM_011531920.2:c.1558+1397C>T	XP_011530222.1:n.1558+1397C>T
XM_017008164.2:c.1534+1397C>T	XP_016863653.1:n.1534+1397C>T
XM_017008165.2:c.1513+1397C>T	XP_016863654.1:n.1513+1397C>T
XM_017008166.2:c.1534+1397C>T	XP_016863655.1:n.1534+1397C>T
NM_001318057.2:c.1575C>T	NP_001304986.2:p.Ser525=
NM_001331035.2:c.1530C>T	NP_001317964.1:p.Ser510=
NM_001375278.1:c.1558+1397C>T	NP_001362207.1:n.1558+1397C>T
NM_001375279.1:c.1534+1397C>T	NP_001362208.1:n.1534+1397C>T
NM_001375280.1:c.1513+1397C>T	NP_001362209.1:n.1513+1397C>T
NM_001375281.1:c.1534+1397C>T	NP_001362210.1:n.1534+1397C>T
NM_001375282.1:c.1513+1397C>T	NP_001362211.1:n.1513+1397C>T
NM_001375283.1:c.1494C>T	NP_001362212.1:p.Ser498=
NM_001375284.1:c.942C>T	NP_001362213.1:p.Ser314=
NR_164671.1:n.1298C>T
NR_164672.1:n.1601C>T
NR_164673.1:n.1575C>T
NM_000204.5:c.1551C>T MANE Select	NP_000195.3:p.Ser517=