Canonical Allele Identifier: CA357854041

Gene: CFI

Linked Data

• dbSNP Id: rs1187032277
• gnomAD v2: 4-110662056-T-C
• gnomAD v3: 4-109740900-T-C
• gnomAD v4: 4-109740900-T-C
• COSMIC: COSM6240719
• MyVariant Identifiers: chr4:g.110662056T>C (hg19) ; chr4:g.109740900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740900T>C , CM000666.2:g.109740900T>C	GRCh38
NC_000004.11:g.110662056T>C , CM000666.1:g.110662056T>C	GRCh37
NC_000004.10:g.110881505T>C	NCBI36
NG_007569.1:g.66086A>G , LRG_48:g.66086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1591A>G
ENST00000695845.1:n.1712+1591A>G
ENST00000695846.1:n.1769A>G
ENST00000394634.7:c.1745A>G MANE Select	ENSP00000378130.2:p.Asn582Ser
ENST00000394635.8:c.1769A>G	ENSP00000378131.3:p.Asn590Ser
ENST00000645635.1:c.1534+1591A>G	ENSP00000493607.1:n.1534+1591A>G
ENST00000394634.6:c.1745A>G	ENSP00000378130.2:p.Asn582Ser
ENST00000394635.7:c.1769A>G	ENSP00000378131.3:p.Asn590Ser
ENST00000504853.3:n.2162A>G
ENST00000512148.5:c.1724A>G	ENSP00000427438.1:p.Asn575Ser
ENST00000618244.4:c.1045-95A>G	ENSP00000483416.1:n.1045-95A>G
NM_000204.3:c.1745A>G , LRG_48t1:c.1745A>G	NP_000195.2:p.Asn582Ser
XM_005262975.1:c.1769A>G	XP_005263032.1:p.Asn590Ser
XM_005262976.1:c.1724A>G	XP_005263033.1:p.Asn575Ser
XM_006714209.1:c.1766A>G	XP_006714272.1:p.Asn589Ser
XM_011531920.1:c.1558+1591A>G	XP_011530222.1:n.1558+1591A>G
NM_000204.4:c.1745A>G	NP_000195.2:p.Asn582Ser
NM_001318057.1:c.1769A>G	NP_001304986.1:p.Asn590Ser
NM_001331035.1:c.1724A>G	NP_001317964.1:p.Asn575Ser
XM_011531920.2:c.1558+1591A>G	XP_011530222.1:n.1558+1591A>G
XM_017008164.2:c.1534+1591A>G	XP_016863653.1:n.1534+1591A>G
XM_017008165.2:c.1513+1591A>G	XP_016863654.1:n.1513+1591A>G
XM_017008166.2:c.1534+1591A>G	XP_016863655.1:n.1534+1591A>G
NM_001318057.2:c.1769A>G	NP_001304986.2:p.Asn590Ser
NM_001331035.2:c.1724A>G	NP_001317964.1:p.Asn575Ser
NM_001375278.1:c.1558+1591A>G	NP_001362207.1:n.1558+1591A>G
NM_001375279.1:c.1534+1591A>G	NP_001362208.1:n.1534+1591A>G
NM_001375280.1:c.1513+1591A>G	NP_001362209.1:n.1513+1591A>G
NM_001375281.1:c.1534+1591A>G	NP_001362210.1:n.1534+1591A>G
NM_001375282.1:c.1513+1591A>G	NP_001362211.1:n.1513+1591A>G
NM_001375283.1:c.1688A>G	NP_001362212.1:p.Asn563Ser
NM_001375284.1:c.1136A>G	NP_001362213.1:p.Asn379Ser
NR_164671.1:n.1492A>G
NR_164672.1:n.1795A>G
NR_164673.1:n.1769A>G
NM_000204.5:c.1745A>G MANE Select	NP_000195.3:p.Asn582Ser