Canonical Allele Identifier: CA357860755

Gene: CFI

Linked Data

• gnomAD v4: 4-109757775-A-G
• MyVariant Identifiers: chr4:g.110678931A>G (hg19) ; chr4:g.109757775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757775A>G , CM000666.2:g.109757775A>G	GRCh38
NC_000004.11:g.110678931A>G , CM000666.1:g.110678931A>G	GRCh37
NC_000004.10:g.110898380A>G	NCBI36
NG_007569.1:g.49211T>C , LRG_48:g.49211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1071T>C
ENST00000695845.1:n.1070T>C
ENST00000695846.1:n.916T>C
ENST00000394634.7:c.892T>C MANE Select	ENSP00000378130.2:p.Ser298Pro
ENST00000394635.8:c.916T>C	ENSP00000378131.3:p.Ser306Pro
ENST00000645635.1:c.892T>C	ENSP00000493607.1:p.Ser298Pro
ENST00000394634.6:c.892T>C	ENSP00000378130.2:p.Ser298Pro
ENST00000394635.7:c.916T>C	ENSP00000378131.3:p.Ser306Pro
ENST00000504853.3:n.1309T>C
ENST00000512148.5:c.883+2495T>C	ENSP00000427438.1:n.883+2495T>C
ENST00000618244.4:c.892T>C	ENSP00000483416.1:p.Ser298Pro
NM_000204.3:c.892T>C , LRG_48t1:c.892T>C	NP_000195.2:p.Ser298Pro
XM_005262975.1:c.916T>C	XP_005263032.1:p.Ser306Pro
XM_005262976.1:c.883+2495T>C	XP_005263033.1:n.883+2495T>C
XM_006714209.1:c.913T>C	XP_006714272.1:p.Ser305Pro
XM_006714210.2:c.916T>C	XP_006714273.1:p.Ser306Pro
XM_011531920.1:c.916T>C	XP_011530222.1:p.Ser306Pro
NM_000204.4:c.892T>C	NP_000195.2:p.Ser298Pro
NM_001318057.1:c.916T>C	NP_001304986.1:p.Ser306Pro
NM_001331035.1:c.883+2495T>C	NP_001317964.1:n.883+2495T>C
XM_006714210.4:c.916T>C	XP_006714273.1:p.Ser306Pro
XM_011531920.2:c.916T>C	XP_011530222.1:p.Ser306Pro
XM_017008164.2:c.892T>C	XP_016863653.1:p.Ser298Pro
XM_017008165.2:c.883+2495T>C	XP_016863654.1:n.883+2495T>C
XM_017008166.2:c.892T>C	XP_016863655.1:p.Ser298Pro
NM_001318057.2:c.916T>C	NP_001304986.2:p.Ser306Pro
NM_001331035.2:c.883+2495T>C	NP_001317964.1:n.883+2495T>C
NM_001375278.1:c.916T>C	NP_001362207.1:p.Ser306Pro
NM_001375279.1:c.892T>C	NP_001362208.1:p.Ser298Pro
NM_001375280.1:c.883+2495T>C	NP_001362209.1:n.883+2495T>C
NM_001375281.1:c.892T>C	NP_001362210.1:p.Ser298Pro
NM_001375282.1:c.883+2495T>C	NP_001362211.1:n.883+2495T>C
NM_001375283.1:c.883+2495T>C	NP_001362212.1:n.883+2495T>C
NM_001375284.1:c.283T>C	NP_001362213.1:p.Ser95Pro
NR_164671.1:n.920T>C
NR_164672.1:n.944T>C
NR_164673.1:n.920T>C
NM_000204.5:c.892T>C MANE Select	NP_000195.3:p.Ser298Pro