Canonical Allele Identifier: CA103686880

Gene: CFI

Linked Data

• dbSNP Id: rs113267478
• MyVariant Identifiers: chr4:g.110661853T>A (hg19) ; chr4:g.109740697T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740697T>A , CM000666.2:g.109740697T>A	GRCh38
NC_000004.11:g.110661853T>A , CM000666.1:g.110661853T>A	GRCh37
NC_000004.10:g.110881302T>A	NCBI36
NG_007569.1:g.66289A>T , LRG_48:g.66289A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1794A>T
ENST00000695845.1:n.1712+1794A>T
ENST00000394634.7:c.*196A>T MANE Select	ENSP00000378130.2:n.*196A>T
ENST00000394635.8:c.*196A>T	ENSP00000378131.3:n.*196A>T
ENST00000645635.1:c.1534+1794A>T	ENSP00000493607.1:n.1534+1794A>T
ENST00000394634.6:c.*196A>T	ENSP00000378130.2:n.*196A>T
ENST00000394635.7:c.*196A>T	ENSP00000378131.3:n.*196A>T
ENST00000504853.3:n.2365A>T
NM_000204.3:c.*196A>T , LRG_48t1:c.*196A>T	NP_000195.2:n.*196A>T
XM_005262975.1:c.*196A>T	XP_005263032.1:n.*196A>T
XM_005262976.1:c.*196A>T	XP_005263033.1:n.*196A>T
XM_006714209.1:c.*196A>T	XP_006714272.1:n.*196A>T
XM_011531920.1:c.1558+1794A>T	XP_011530222.1:n.1558+1794A>T
NM_000204.4:c.*196A>T	NP_000195.2:n.*196A>T
NM_001318057.1:c.*196A>T	NP_001304986.1:n.*196A>T
NM_001331035.1:c.*196A>T	NP_001317964.1:n.*196A>T
XM_011531920.2:c.1558+1794A>T	XP_011530222.1:n.1558+1794A>T
XM_017008164.2:c.1534+1794A>T	XP_016863653.1:n.1534+1794A>T
XM_017008165.2:c.1513+1794A>T	XP_016863654.1:n.1513+1794A>T
XM_017008166.2:c.1534+1794A>T	XP_016863655.1:n.1534+1794A>T
NM_001318057.2:c.*196A>T	NP_001304986.2:n.*196A>T
NM_001331035.2:c.*196A>T	NP_001317964.1:n.*196A>T
NM_001375278.1:c.1558+1794A>T	NP_001362207.1:n.1558+1794A>T
NM_001375279.1:c.1534+1794A>T	NP_001362208.1:n.1534+1794A>T
NM_001375280.1:c.1513+1794A>T	NP_001362209.1:n.1513+1794A>T
NM_001375281.1:c.1534+1794A>T	NP_001362210.1:n.1534+1794A>T
NM_001375282.1:c.1513+1794A>T	NP_001362211.1:n.1513+1794A>T
NM_001375283.1:c.*196A>T	NP_001362212.1:n.*196A>T
NM_001375284.1:c.*196A>T	NP_001362213.1:n.*196A>T
NR_164671.1:n.1695A>T
NR_164672.1:n.1998A>T
NR_164673.1:n.1972A>T
NM_000204.5:c.*196A>T MANE Select	NP_000195.3:n.*196A>T