Canonical Allele Identifier: CA3041841

Gene: CFI

Linked Data

• dbSNP Id: rs755073236
• ExAC: 4:110662124 G / A
• MyVariant Identifiers: chr4:g.110662124G>A (hg19) ; chr4:g.109740968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740968G>A , CM000666.2:g.109740968G>A	GRCh38
NC_000004.11:g.110662124G>A , CM000666.1:g.110662124G>A	GRCh37
NC_000004.10:g.110881573G>A	NCBI36
NG_007569.1:g.66018C>T , LRG_48:g.66018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1523C>T
ENST00000695845.1:n.1712+1523C>T
ENST00000695846.1:n.1701C>T
ENST00000394634.7:c.1677C>T MANE Select	ENSP00000378130.2:p.Tyr559=
ENST00000394635.8:c.1701C>T	ENSP00000378131.3:p.Tyr567=
ENST00000645635.1:c.1534+1523C>T	ENSP00000493607.1:n.1534+1523C>T
ENST00000394634.6:c.1677C>T	ENSP00000378130.2:p.Tyr559=
ENST00000394635.7:c.1701C>T	ENSP00000378131.3:p.Tyr567=
ENST00000504853.3:n.2094C>T
ENST00000512148.5:c.1656C>T	ENSP00000427438.1:p.Tyr552=
ENST00000618244.4:c.1045-163C>T	ENSP00000483416.1:n.1045-163C>T
NM_000204.3:c.1677C>T , LRG_48t1:c.1677C>T	NP_000195.2:p.Tyr559=
XM_005262975.1:c.1701C>T	XP_005263032.1:p.Tyr567=
XM_005262976.1:c.1656C>T	XP_005263033.1:p.Tyr552=
XM_006714209.1:c.1698C>T	XP_006714272.1:p.Tyr566=
XM_011531920.1:c.1558+1523C>T	XP_011530222.1:n.1558+1523C>T
NM_000204.4:c.1677C>T	NP_000195.2:p.Tyr559=
NM_001318057.1:c.1701C>T	NP_001304986.1:p.Tyr567=
NM_001331035.1:c.1656C>T	NP_001317964.1:p.Tyr552=
XM_011531920.2:c.1558+1523C>T	XP_011530222.1:n.1558+1523C>T
XM_017008164.2:c.1534+1523C>T	XP_016863653.1:n.1534+1523C>T
XM_017008165.2:c.1513+1523C>T	XP_016863654.1:n.1513+1523C>T
XM_017008166.2:c.1534+1523C>T	XP_016863655.1:n.1534+1523C>T
NM_001318057.2:c.1701C>T	NP_001304986.2:p.Tyr567=
NM_001331035.2:c.1656C>T	NP_001317964.1:p.Tyr552=
NM_001375278.1:c.1558+1523C>T	NP_001362207.1:n.1558+1523C>T
NM_001375279.1:c.1534+1523C>T	NP_001362208.1:n.1534+1523C>T
NM_001375280.1:c.1513+1523C>T	NP_001362209.1:n.1513+1523C>T
NM_001375281.1:c.1534+1523C>T	NP_001362210.1:n.1534+1523C>T
NM_001375282.1:c.1513+1523C>T	NP_001362211.1:n.1513+1523C>T
NM_001375283.1:c.1620C>T	NP_001362212.1:p.Tyr540=
NM_001375284.1:c.1068C>T	NP_001362213.1:p.Tyr356=
NR_164671.1:n.1424C>T
NR_164672.1:n.1727C>T
NR_164673.1:n.1701C>T
NM_000204.5:c.1677C>T MANE Select	NP_000195.3:p.Tyr559=