Canonical Allele Identifier: CA554050591

Gene: CFI

Linked Data

• dbSNP Id: rs1414126397
• gnomAD v2: 4-110662170-A-AC
• gnomAD v4: 4-109741014-A-AC
• MyVariant Identifiers: chr4:g.110662170_110662171insC (hg19) ; chr4:g.109741014_109741015insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741015dup , CM000666.2:g.109741015dup	GRCh38
NC_000004.11:g.110662171dup , CM000666.1:g.110662171dup	GRCh37
NC_000004.10:g.110881620dup	NCBI36
NG_007569.1:g.65971dup , LRG_48:g.65971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1476dup
ENST00000695845.1:n.1712+1476dup
ENST00000695846.1:n.1654dup
ENST00000394634.7:c.1630dup MANE Select	ENSP00000378130.2:p.Val544GlyfsTer24
ENST00000394635.8:c.1654dup	ENSP00000378131.3:p.Val552GlyfsTer24
ENST00000645635.1:c.1534+1476dup	ENSP00000493607.1:n.1534+1476dup
ENST00000394634.6:c.1630dup	ENSP00000378130.2:p.Val544GlyfsTer24
ENST00000394635.7:c.1654dup	ENSP00000378131.3:p.Val552GlyfsTer24
ENST00000504853.3:n.2047dup
ENST00000512148.5:c.1609dup	ENSP00000427438.1:p.Val537GlyfsTer24
ENST00000618244.4:c.1045-210dup	ENSP00000483416.1:n.1045-210dup
NM_000204.3:c.1630dup , LRG_48t1:c.1630dup	NP_000195.2:p.Val544GlyfsTer24
XM_005262975.1:c.1654dup	XP_005263032.1:p.Val552GlyfsTer24
XM_005262976.1:c.1609dup	XP_005263033.1:p.Val537GlyfsTer24
XM_006714209.1:c.1651dup	XP_006714272.1:p.Val551GlyfsTer24
XM_011531920.1:c.1558+1476dup	XP_011530222.1:n.1558+1476dup
NM_000204.4:c.1630dup	NP_000195.2:p.Val544GlyfsTer24
NM_001318057.1:c.1654dup	NP_001304986.1:p.Val552GlyfsTer24
NM_001331035.1:c.1609dup	NP_001317964.1:p.Val537GlyfsTer24
XM_011531920.2:c.1558+1476dup	XP_011530222.1:n.1558+1476dup
XM_017008164.2:c.1534+1476dup	XP_016863653.1:n.1534+1476dup
XM_017008165.2:c.1513+1476dup	XP_016863654.1:n.1513+1476dup
XM_017008166.2:c.1534+1476dup	XP_016863655.1:n.1534+1476dup
NM_001318057.2:c.1654dup	NP_001304986.2:p.Val552GlyfsTer24
NM_001331035.2:c.1609dup	NP_001317964.1:p.Val537GlyfsTer24
NM_001375278.1:c.1558+1476dup	NP_001362207.1:n.1558+1476dup
NM_001375279.1:c.1534+1476dup	NP_001362208.1:n.1534+1476dup
NM_001375280.1:c.1513+1476dup	NP_001362209.1:n.1513+1476dup
NM_001375281.1:c.1534+1476dup	NP_001362210.1:n.1534+1476dup
NM_001375282.1:c.1513+1476dup	NP_001362211.1:n.1513+1476dup
NM_001375283.1:c.1573dup	NP_001362212.1:p.Val525GlyfsTer24
NM_001375284.1:c.1021dup	NP_001362213.1:p.Val341GlyfsTer24
NR_164671.1:n.1377dup
NR_164672.1:n.1680dup
NR_164673.1:n.1654dup
NM_000204.5:c.1630dup MANE Select	NP_000195.3:p.Val544GlyfsTer24