Canonical Allele Identifier: CA3041864

Gene: CFI

Linked Data

• dbSNP Id: rs757628055
• ExAC: 4:110662262 T / C
• gnomAD v2: 4-110662262-T-C
• gnomAD v4: 4-109741106-T-C
• MyVariant Identifiers: chr4:g.110662262T>C (hg19) ; chr4:g.109741106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741106T>C , CM000666.2:g.109741106T>C	GRCh38
NC_000004.11:g.110662262T>C , CM000666.1:g.110662262T>C	GRCh37
NC_000004.10:g.110881711T>C	NCBI36
NG_007569.1:g.65880A>G , LRG_48:g.65880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1385A>G
ENST00000695845.1:n.1712+1385A>G
ENST00000695846.1:n.1563A>G
ENST00000394634.7:c.1539A>G MANE Select	ENSP00000378130.2:p.Thr513=
ENST00000394635.8:c.1563A>G	ENSP00000378131.3:p.Thr521=
ENST00000645635.1:c.1534+1385A>G	ENSP00000493607.1:n.1534+1385A>G
ENST00000394634.6:c.1539A>G	ENSP00000378130.2:p.Thr513=
ENST00000394635.7:c.1563A>G	ENSP00000378131.3:p.Thr521=
ENST00000504853.3:n.1956A>G
ENST00000512148.5:c.1518A>G	ENSP00000427438.1:p.Thr506=
ENST00000618244.4:c.1045-301A>G	ENSP00000483416.1:n.1045-301A>G
NM_000204.3:c.1539A>G , LRG_48t1:c.1539A>G	NP_000195.2:p.Thr513=
XM_005262975.1:c.1563A>G	XP_005263032.1:p.Thr521=
XM_005262976.1:c.1518A>G	XP_005263033.1:p.Thr506=
XM_006714209.1:c.1560A>G	XP_006714272.1:p.Thr520=
XM_011531920.1:c.1558+1385A>G	XP_011530222.1:n.1558+1385A>G
NM_000204.4:c.1539A>G	NP_000195.2:p.Thr513=
NM_001318057.1:c.1563A>G	NP_001304986.1:p.Thr521=
NM_001331035.1:c.1518A>G	NP_001317964.1:p.Thr506=
XM_011531920.2:c.1558+1385A>G	XP_011530222.1:n.1558+1385A>G
XM_017008164.2:c.1534+1385A>G	XP_016863653.1:n.1534+1385A>G
XM_017008165.2:c.1513+1385A>G	XP_016863654.1:n.1513+1385A>G
XM_017008166.2:c.1534+1385A>G	XP_016863655.1:n.1534+1385A>G
NM_001318057.2:c.1563A>G	NP_001304986.2:p.Thr521=
NM_001331035.2:c.1518A>G	NP_001317964.1:p.Thr506=
NM_001375278.1:c.1558+1385A>G	NP_001362207.1:n.1558+1385A>G
NM_001375279.1:c.1534+1385A>G	NP_001362208.1:n.1534+1385A>G
NM_001375280.1:c.1513+1385A>G	NP_001362209.1:n.1513+1385A>G
NM_001375281.1:c.1534+1385A>G	NP_001362210.1:n.1534+1385A>G
NM_001375282.1:c.1513+1385A>G	NP_001362211.1:n.1513+1385A>G
NM_001375283.1:c.1482A>G	NP_001362212.1:p.Thr494=
NM_001375284.1:c.930A>G	NP_001362213.1:p.Thr310=
NR_164671.1:n.1286A>G
NR_164672.1:n.1589A>G
NR_164673.1:n.1563A>G
NM_000204.5:c.1539A>G MANE Select	NP_000195.3:p.Thr513=