Canonical Allele Identifier: CA357854053

Gene: CFI

Linked Data

• dbSNP Id: rs1367812918
• gnomAD v2: 4-110662058-G-T
• gnomAD v3: 4-109740902-G-T
• gnomAD v4: 4-109740902-G-T
• COSMIC: COSM6248635
• MyVariant Identifiers: chr4:g.110662058G>T (hg19) ; chr4:g.109740902G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740902G>T , CM000666.2:g.109740902G>T	GRCh38
NC_000004.11:g.110662058G>T , CM000666.1:g.110662058G>T	GRCh37
NC_000004.10:g.110881507G>T	NCBI36
NG_007569.1:g.66084C>A , LRG_48:g.66084C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1589C>A
ENST00000695845.1:n.1712+1589C>A
ENST00000695846.1:n.1767C>A
ENST00000394634.7:c.1743C>A MANE Select	ENSP00000378130.2:p.Tyr581Ter
ENST00000394635.8:c.1767C>A	ENSP00000378131.3:p.Tyr589Ter
ENST00000645635.1:c.1534+1589C>A	ENSP00000493607.1:n.1534+1589C>A
ENST00000394634.6:c.1743C>A	ENSP00000378130.2:p.Tyr581Ter
ENST00000394635.7:c.1767C>A	ENSP00000378131.3:p.Tyr589Ter
ENST00000504853.3:n.2160C>A
ENST00000512148.5:c.1722C>A	ENSP00000427438.1:p.Tyr574Ter
ENST00000618244.4:c.1045-97C>A	ENSP00000483416.1:n.1045-97C>A
NM_000204.3:c.1743C>A , LRG_48t1:c.1743C>A	NP_000195.2:p.Tyr581Ter
XM_005262975.1:c.1767C>A	XP_005263032.1:p.Tyr589Ter
XM_005262976.1:c.1722C>A	XP_005263033.1:p.Tyr574Ter
XM_006714209.1:c.1764C>A	XP_006714272.1:p.Tyr588Ter
XM_011531920.1:c.1558+1589C>A	XP_011530222.1:n.1558+1589C>A
NM_000204.4:c.1743C>A	NP_000195.2:p.Tyr581Ter
NM_001318057.1:c.1767C>A	NP_001304986.1:p.Tyr589Ter
NM_001331035.1:c.1722C>A	NP_001317964.1:p.Tyr574Ter
XM_011531920.2:c.1558+1589C>A	XP_011530222.1:n.1558+1589C>A
XM_017008164.2:c.1534+1589C>A	XP_016863653.1:n.1534+1589C>A
XM_017008165.2:c.1513+1589C>A	XP_016863654.1:n.1513+1589C>A
XM_017008166.2:c.1534+1589C>A	XP_016863655.1:n.1534+1589C>A
NM_001318057.2:c.1767C>A	NP_001304986.2:p.Tyr589Ter
NM_001331035.2:c.1722C>A	NP_001317964.1:p.Tyr574Ter
NM_001375278.1:c.1558+1589C>A	NP_001362207.1:n.1558+1589C>A
NM_001375279.1:c.1534+1589C>A	NP_001362208.1:n.1534+1589C>A
NM_001375280.1:c.1513+1589C>A	NP_001362209.1:n.1513+1589C>A
NM_001375281.1:c.1534+1589C>A	NP_001362210.1:n.1534+1589C>A
NM_001375282.1:c.1513+1589C>A	NP_001362211.1:n.1513+1589C>A
NM_001375283.1:c.1686C>A	NP_001362212.1:p.Tyr562Ter
NM_001375284.1:c.1134C>A	NP_001362213.1:p.Tyr378Ter
NR_164671.1:n.1490C>A
NR_164672.1:n.1793C>A
NR_164673.1:n.1767C>A
NM_000204.5:c.1743C>A MANE Select	NP_000195.3:p.Tyr581Ter