Canonical Allele Identifier: CA3041810

Gene: CFI

Linked Data

• dbSNP Id: rs763372376
• ExAC: 4:110661941 G / A
• MyVariant Identifiers: chr4:g.110661941G>A (hg19) ; chr4:g.109740785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740785G>A , CM000666.2:g.109740785G>A	GRCh38
NC_000004.11:g.110661941G>A , CM000666.1:g.110661941G>A	GRCh37
NC_000004.10:g.110881390G>A	NCBI36
NG_007569.1:g.66201C>T , LRG_48:g.66201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1706C>T
ENST00000695845.1:n.1712+1706C>T
ENST00000695846.1:n.1884C>T
ENST00000394634.7:c.*108C>T MANE Select	ENSP00000378130.2:n.*108C>T
ENST00000394635.8:c.*108C>T	ENSP00000378131.3:n.*108C>T
ENST00000645635.1:c.1534+1706C>T	ENSP00000493607.1:n.1534+1706C>T
ENST00000394634.6:c.*108C>T	ENSP00000378130.2:n.*108C>T
ENST00000394635.7:c.*108C>T	ENSP00000378131.3:n.*108C>T
ENST00000504853.3:n.2277C>T
ENST00000512148.5:c.*108C>T	ENSP00000427438.1:n.*108C>T
ENST00000618244.4:c.1065C>T	ENSP00000483416.1:p.Ile355=
NM_000204.3:c.*108C>T , LRG_48t1:c.*108C>T	NP_000195.2:n.*108C>T
XM_005262975.1:c.*108C>T	XP_005263032.1:n.*108C>T
XM_005262976.1:c.*108C>T	XP_005263033.1:n.*108C>T
XM_006714209.1:c.*108C>T	XP_006714272.1:n.*108C>T
XM_011531920.1:c.1558+1706C>T	XP_011530222.1:n.1558+1706C>T
NM_000204.4:c.*108C>T	NP_000195.2:n.*108C>T
NM_001318057.1:c.*108C>T	NP_001304986.1:n.*108C>T
NM_001331035.1:c.*108C>T	NP_001317964.1:n.*108C>T
XM_011531920.2:c.1558+1706C>T	XP_011530222.1:n.1558+1706C>T
XM_017008164.2:c.1534+1706C>T	XP_016863653.1:n.1534+1706C>T
XM_017008165.2:c.1513+1706C>T	XP_016863654.1:n.1513+1706C>T
XM_017008166.2:c.1534+1706C>T	XP_016863655.1:n.1534+1706C>T
NM_001318057.2:c.*108C>T	NP_001304986.2:n.*108C>T
NM_001331035.2:c.*108C>T	NP_001317964.1:n.*108C>T
NM_001375278.1:c.1558+1706C>T	NP_001362207.1:n.1558+1706C>T
NM_001375279.1:c.1534+1706C>T	NP_001362208.1:n.1534+1706C>T
NM_001375280.1:c.1513+1706C>T	NP_001362209.1:n.1513+1706C>T
NM_001375281.1:c.1534+1706C>T	NP_001362210.1:n.1534+1706C>T
NM_001375282.1:c.1513+1706C>T	NP_001362211.1:n.1513+1706C>T
NM_001375283.1:c.*108C>T	NP_001362212.1:n.*108C>T
NM_001375284.1:c.*108C>T	NP_001362213.1:n.*108C>T
NR_164671.1:n.1607C>T
NR_164672.1:n.1910C>T
NR_164673.1:n.1884C>T
NM_000204.5:c.*108C>T MANE Select	NP_000195.3:n.*108C>T