Canonical Allele Identifier: CA440585498

Gene: CFI

Linked Data

• dbSNP Id: rs1724897775
• gnomAD v4: 4-109749595-T-C
• MyVariant Identifiers: chr4:g.110670751T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109749595T>C , CM000666.2:g.109749595T>C	GRCh38
NC_000004.11:g.110670751T>C , CM000666.1:g.110670751T>C	GRCh37
NC_000004.10:g.110890200T>C	NCBI36
NG_007569.1:g.57391A>G , LRG_48:g.57391A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.1127A>G
ENST00000695845.1:n.1126A>G
ENST00000695846.1:n.972A>G
ENST00000394634.7:c.948A>G MANE Select	ENSP00000378130.2:p.Arg316=
ENST00000394635.8:c.972A>G	ENSP00000378131.3:p.Arg324=
ENST00000645635.1:c.948A>G	ENSP00000493607.1:p.Arg316=
ENST00000394634.6:c.948A>G	ENSP00000378130.2:p.Arg316=
ENST00000394635.7:c.972A>G	ENSP00000378131.3:p.Arg324=
ENST00000504853.3:n.1365A>G
ENST00000512148.5:c.927A>G	ENSP00000427438.1:p.Arg309=
ENST00000618244.4:c.948A>G	ENSP00000483416.1:p.Arg316=
NM_000204.3:c.948A>G , LRG_48t1:c.948A>G	NP_000195.2:p.Arg316=
XM_005262975.1:c.972A>G	XP_005263032.1:p.Arg324=
XM_005262976.1:c.927A>G	XP_005263033.1:p.Arg309=
XM_006714209.1:c.969A>G	XP_006714272.1:p.Arg323=
XM_006714210.2:c.972A>G	XP_006714273.1:p.Arg324=
XM_011531920.1:c.972A>G	XP_011530222.1:p.Arg324=
NM_000204.4:c.948A>G	NP_000195.2:p.Arg316=
NM_001318057.1:c.972A>G	NP_001304986.1:p.Arg324=
NM_001331035.1:c.927A>G	NP_001317964.1:p.Arg309=
XM_006714210.4:c.972A>G	XP_006714273.1:p.Arg324=
XM_011531920.2:c.972A>G	XP_011530222.1:p.Arg324=
XM_017008164.2:c.948A>G	XP_016863653.1:p.Arg316=
XM_017008165.2:c.927A>G	XP_016863654.1:p.Arg309=
XM_017008166.2:c.948A>G	XP_016863655.1:p.Arg316=
NM_001318057.2:c.972A>G	NP_001304986.2:p.Arg324=
NM_001331035.2:c.927A>G	NP_001317964.1:p.Arg309=
NM_001375278.1:c.972A>G	NP_001362207.1:p.Arg324=
NM_001375279.1:c.948A>G	NP_001362208.1:p.Arg316=
NM_001375280.1:c.927A>G	NP_001362209.1:p.Arg309=
NM_001375281.1:c.948A>G	NP_001362210.1:p.Arg316=
NM_001375282.1:c.927A>G	NP_001362211.1:p.Arg309=
NM_001375283.1:c.891A>G	NP_001362212.1:p.Arg297=
NM_001375284.1:c.339A>G	NP_001362213.1:p.Arg113=
NR_164671.1:n.976A>G
NR_164672.1:n.1000A>G
NR_164673.1:n.976A>G
NM_000204.5:c.948A>G MANE Select	NP_000195.3:p.Arg316=