Canonical Allele Identifier: CA357856786

Gene: CFI

Linked Data

• MyVariant Identifiers: chr4:g.110667459T>A (hg19) ; chr4:g.109746303T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746303T>A , CM000666.2:g.109746303T>A	GRCh38
NC_000004.11:g.110667459T>A , CM000666.1:g.110667459T>A	GRCh37
NC_000004.10:g.110886908T>A	NCBI36
NG_007569.1:g.60683A>T , LRG_48:g.60683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1527A>T
ENST00000695845.1:n.1526A>T
ENST00000695846.1:n.1372A>T
ENST00000394634.7:c.1348A>T MANE Select	ENSP00000378130.2:p.Ile450Phe
ENST00000394635.8:c.1372A>T	ENSP00000378131.3:p.Ile458Phe
ENST00000645635.1:c.1348A>T	ENSP00000493607.1:p.Ile450Phe
ENST00000394634.6:c.1348A>T	ENSP00000378130.2:p.Ile450Phe
ENST00000394635.7:c.1372A>T	ENSP00000378131.3:p.Ile458Phe
ENST00000504853.3:n.1765A>T
ENST00000512148.5:c.1327A>T	ENSP00000427438.1:p.Ile443Phe
ENST00000618244.4:c.1044+3196A>T	ENSP00000483416.1:n.1044+3196A>T
NM_000204.3:c.1348A>T , LRG_48t1:c.1348A>T	NP_000195.2:p.Ile450Phe
XM_005262975.1:c.1372A>T	XP_005263032.1:p.Ile458Phe
XM_005262976.1:c.1327A>T	XP_005263033.1:p.Ile443Phe
XM_006714209.1:c.1369A>T	XP_006714272.1:p.Ile457Phe
XM_006714210.2:c.1372A>T	XP_006714273.1:p.Ile458Phe
XM_011531920.1:c.1372A>T	XP_011530222.1:p.Ile458Phe
NM_000204.4:c.1348A>T	NP_000195.2:p.Ile450Phe
NM_001318057.1:c.1372A>T	NP_001304986.1:p.Ile458Phe
NM_001331035.1:c.1327A>T	NP_001317964.1:p.Ile443Phe
XM_006714210.4:c.1372A>T	XP_006714273.1:p.Ile458Phe
XM_011531920.2:c.1372A>T	XP_011530222.1:p.Ile458Phe
XM_017008164.2:c.1348A>T	XP_016863653.1:p.Ile450Phe
XM_017008165.2:c.1327A>T	XP_016863654.1:p.Ile443Phe
XM_017008166.2:c.1348A>T	XP_016863655.1:p.Ile450Phe
NM_001318057.2:c.1372A>T	NP_001304986.2:p.Ile458Phe
NM_001331035.2:c.1327A>T	NP_001317964.1:p.Ile443Phe
NM_001375278.1:c.1372A>T	NP_001362207.1:p.Ile458Phe
NM_001375279.1:c.1348A>T	NP_001362208.1:p.Ile450Phe
NM_001375280.1:c.1327A>T	NP_001362209.1:p.Ile443Phe
NM_001375281.1:c.1348A>T	NP_001362210.1:p.Ile450Phe
NM_001375282.1:c.1327A>T	NP_001362211.1:p.Ile443Phe
NM_001375283.1:c.1291A>T	NP_001362212.1:p.Ile431Phe
NM_001375284.1:c.739A>T	NP_001362213.1:p.Ile247Phe
NR_164671.1:n.1176+2915A>T
NR_164672.1:n.1398A>T
NR_164673.1:n.1372A>T
NM_000204.5:c.1348A>T MANE Select	NP_000195.3:p.Ile450Phe