Canonical Allele Identifier: CA3041840

Gene: CFI

Linked Data

• dbSNP Id: rs566161073
• ExAC: 4:110662120 T / C
• gnomAD v3: 4-109740964-T-C
• gnomAD v4: 4-109740964-T-C
• MyVariant Identifiers: chr4:g.110662120T>C (hg19) ; chr4:g.109740964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740964T>C , CM000666.2:g.109740964T>C	GRCh38
NC_000004.11:g.110662120T>C , CM000666.1:g.110662120T>C	GRCh37
NC_000004.10:g.110881569T>C	NCBI36
NG_007569.1:g.66022A>G , LRG_48:g.66022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1527A>G
ENST00000695845.1:n.1712+1527A>G
ENST00000695846.1:n.1705A>G
ENST00000394634.7:c.1681A>G MANE Select	ENSP00000378130.2:p.Lys561Glu
ENST00000394635.8:c.1705A>G	ENSP00000378131.3:p.Lys569Glu
ENST00000645635.1:c.1534+1527A>G	ENSP00000493607.1:n.1534+1527A>G
ENST00000394634.6:c.1681A>G	ENSP00000378130.2:p.Lys561Glu
ENST00000394635.7:c.1705A>G	ENSP00000378131.3:p.Lys569Glu
ENST00000504853.3:n.2098A>G
ENST00000512148.5:c.1660A>G	ENSP00000427438.1:p.Lys554Glu
ENST00000618244.4:c.1045-159A>G	ENSP00000483416.1:n.1045-159A>G
NM_000204.3:c.1681A>G , LRG_48t1:c.1681A>G	NP_000195.2:p.Lys561Glu
XM_005262975.1:c.1705A>G	XP_005263032.1:p.Lys569Glu
XM_005262976.1:c.1660A>G	XP_005263033.1:p.Lys554Glu
XM_006714209.1:c.1702A>G	XP_006714272.1:p.Lys568Glu
XM_011531920.1:c.1558+1527A>G	XP_011530222.1:n.1558+1527A>G
NM_000204.4:c.1681A>G	NP_000195.2:p.Lys561Glu
NM_001318057.1:c.1705A>G	NP_001304986.1:p.Lys569Glu
NM_001331035.1:c.1660A>G	NP_001317964.1:p.Lys554Glu
XM_011531920.2:c.1558+1527A>G	XP_011530222.1:n.1558+1527A>G
XM_017008164.2:c.1534+1527A>G	XP_016863653.1:n.1534+1527A>G
XM_017008165.2:c.1513+1527A>G	XP_016863654.1:n.1513+1527A>G
XM_017008166.2:c.1534+1527A>G	XP_016863655.1:n.1534+1527A>G
NM_001318057.2:c.1705A>G	NP_001304986.2:p.Lys569Glu
NM_001331035.2:c.1660A>G	NP_001317964.1:p.Lys554Glu
NM_001375278.1:c.1558+1527A>G	NP_001362207.1:n.1558+1527A>G
NM_001375279.1:c.1534+1527A>G	NP_001362208.1:n.1534+1527A>G
NM_001375280.1:c.1513+1527A>G	NP_001362209.1:n.1513+1527A>G
NM_001375281.1:c.1534+1527A>G	NP_001362210.1:n.1534+1527A>G
NM_001375282.1:c.1513+1527A>G	NP_001362211.1:n.1513+1527A>G
NM_001375283.1:c.1624A>G	NP_001362212.1:p.Lys542Glu
NM_001375284.1:c.1072A>G	NP_001362213.1:p.Lys358Glu
NR_164671.1:n.1428A>G
NR_164672.1:n.1731A>G
NR_164673.1:n.1705A>G
NM_000204.5:c.1681A>G MANE Select	NP_000195.3:p.Lys561Glu