Canonical Allele Identifier: CA1066623734

Gene: CFI

Linked Data

• dbSNP Id: rs1723663655
• gnomAD v3: 4-109740566-A-G
• gnomAD v4: 4-109740566-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740566A>G , CM000666.2:g.109740566A>G	GRCh38
NC_000004.11:g.110661722A>G , CM000666.1:g.110661722A>G	GRCh37
NC_000004.10:g.110881171A>G	NCBI36
NG_007569.1:g.66420T>C , LRG_48:g.66420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1925T>C
ENST00000695845.1:n.1712+1925T>C
ENST00000645635.1:c.1534+1925T>C	ENSP00000493607.1:n.1534+1925T>C
XM_011531920.1:c.1558+1925T>C	XP_011530222.1:n.1558+1925T>C
XM_011531920.2:c.1558+1925T>C	XP_011530222.1:n.1558+1925T>C
XM_017008164.2:c.1534+1925T>C	XP_016863653.1:n.1534+1925T>C
XM_017008165.2:c.1513+1925T>C	XP_016863654.1:n.1513+1925T>C
XM_017008166.2:c.1534+1925T>C	XP_016863655.1:n.1534+1925T>C
NM_001375278.1:c.1558+1925T>C	NP_001362207.1:n.1558+1925T>C
NM_001375279.1:c.1534+1925T>C	NP_001362208.1:n.1534+1925T>C
NM_001375280.1:c.1513+1925T>C	NP_001362209.1:n.1513+1925T>C
NM_001375281.1:c.1534+1925T>C	NP_001362210.1:n.1534+1925T>C
NM_001375282.1:c.1513+1925T>C	NP_001362211.1:n.1513+1925T>C