Canonical Allele Identifier: CA785224397

Gene: CFI

Linked Data

• dbSNP Id: rs1408847125
• gnomAD v3: 4-109740693-T-A
• gnomAD v4: 4-109740693-T-A
• MyVariant Identifiers: chr4:g.110661849T>A (hg19) ; chr4:g.109740693T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740693T>A , CM000666.2:g.109740693T>A	GRCh38
NC_000004.11:g.110661849T>A , CM000666.1:g.110661849T>A	GRCh37
NC_000004.10:g.110881298T>A	NCBI36
NG_007569.1:g.66293A>T , LRG_48:g.66293A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1798A>T
ENST00000695845.1:n.1712+1798A>T
ENST00000645635.1:c.1534+1798A>T	ENSP00000493607.1:n.1534+1798A>T
NM_000204.3:c.*200A>T , LRG_48t1:c.*200A>T	NP_000195.2:n.*200A>T
XM_005262975.1:c.*200A>T	XP_005263032.1:n.*200A>T
XM_005262976.1:c.*200A>T	XP_005263033.1:n.*200A>T
XM_006714209.1:c.*200A>T	XP_006714272.1:n.*200A>T
XM_011531920.1:c.1558+1798A>T	XP_011530222.1:n.1558+1798A>T
NM_000204.4:c.*200A>T	NP_000195.2:n.*200A>T
NM_001318057.1:c.*200A>T	NP_001304986.1:n.*200A>T
NM_001331035.1:c.*200A>T	NP_001317964.1:n.*200A>T
XM_011531920.2:c.1558+1798A>T	XP_011530222.1:n.1558+1798A>T
XM_017008164.2:c.1534+1798A>T	XP_016863653.1:n.1534+1798A>T
XM_017008165.2:c.1513+1798A>T	XP_016863654.1:n.1513+1798A>T
XM_017008166.2:c.1534+1798A>T	XP_016863655.1:n.1534+1798A>T
NM_001375278.1:c.1558+1798A>T	NP_001362207.1:n.1558+1798A>T
NM_001375279.1:c.1534+1798A>T	NP_001362208.1:n.1534+1798A>T
NM_001375280.1:c.1513+1798A>T	NP_001362209.1:n.1513+1798A>T
NM_001375281.1:c.1534+1798A>T	NP_001362210.1:n.1534+1798A>T
NM_001375282.1:c.1513+1798A>T	NP_001362211.1:n.1513+1798A>T