Canonical Allele Identifier: CA357856573

Gene: CFI

Linked Data

• MyVariant Identifiers: chr4:g.110667392C>G (hg19) ; chr4:g.109746236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746236C>G , CM000666.2:g.109746236C>G	GRCh38
NC_000004.11:g.110667392C>G , CM000666.1:g.110667392C>G	GRCh37
NC_000004.10:g.110886841C>G	NCBI36
NG_007569.1:g.60750G>C , LRG_48:g.60750G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1594G>C
ENST00000695845.1:n.1593G>C
ENST00000695846.1:n.1439G>C
ENST00000394634.7:c.1415G>C MANE Select	ENSP00000378130.2:p.Trp472Ser
ENST00000394635.8:c.1439G>C	ENSP00000378131.3:p.Trp480Ser
ENST00000645635.1:c.1415G>C	ENSP00000493607.1:p.Trp472Ser
ENST00000394634.6:c.1415G>C	ENSP00000378130.2:p.Trp472Ser
ENST00000394635.7:c.1439G>C	ENSP00000378131.3:p.Trp480Ser
ENST00000504853.3:n.1832G>C
ENST00000512148.5:c.1394G>C	ENSP00000427438.1:p.Trp465Ser
ENST00000515512.1:n.57G>C
ENST00000618244.4:c.1044+3263G>C	ENSP00000483416.1:n.1044+3263G>C
NM_000204.3:c.1415G>C , LRG_48t1:c.1415G>C	NP_000195.2:p.Trp472Ser
XM_005262975.1:c.1439G>C	XP_005263032.1:p.Trp480Ser
XM_005262976.1:c.1394G>C	XP_005263033.1:p.Trp465Ser
XM_006714209.1:c.1436G>C	XP_006714272.1:p.Trp479Ser
XM_006714210.2:c.1439G>C	XP_006714273.1:p.Trp480Ser
XM_011531920.1:c.1439G>C	XP_011530222.1:p.Trp480Ser
NM_000204.4:c.1415G>C	NP_000195.2:p.Trp472Ser
NM_001318057.1:c.1439G>C	NP_001304986.1:p.Trp480Ser
NM_001331035.1:c.1394G>C	NP_001317964.1:p.Trp465Ser
XM_006714210.4:c.1439G>C	XP_006714273.1:p.Trp480Ser
XM_011531920.2:c.1439G>C	XP_011530222.1:p.Trp480Ser
XM_017008164.2:c.1415G>C	XP_016863653.1:p.Trp472Ser
XM_017008165.2:c.1394G>C	XP_016863654.1:p.Trp465Ser
XM_017008166.2:c.1415G>C	XP_016863655.1:p.Trp472Ser
NM_001318057.2:c.1439G>C	NP_001304986.2:p.Trp480Ser
NM_001331035.2:c.1394G>C	NP_001317964.1:p.Trp465Ser
NM_001375278.1:c.1439G>C	NP_001362207.1:p.Trp480Ser
NM_001375279.1:c.1415G>C	NP_001362208.1:p.Trp472Ser
NM_001375280.1:c.1394G>C	NP_001362209.1:p.Trp465Ser
NM_001375281.1:c.1415G>C	NP_001362210.1:p.Trp472Ser
NM_001375282.1:c.1394G>C	NP_001362211.1:p.Trp465Ser
NM_001375283.1:c.1358G>C	NP_001362212.1:p.Trp453Ser
NM_001375284.1:c.806G>C	NP_001362213.1:p.Trp269Ser
NR_164671.1:n.1176+2982G>C
NR_164672.1:n.1465G>C
NR_164673.1:n.1439G>C
NM_000204.5:c.1415G>C MANE Select	NP_000195.3:p.Trp472Ser