Canonical Allele Identifier: CA2671741407

Gene: CFI

Linked Data

• gnomAD v4: 4-109740693-T-C

Genomic Alleles

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

Transcript Alleles

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