Canonical Allele Identifier: CA785224338

Gene: CFI

Linked Data

• dbSNP Id: rs1162550910
• gnomAD v3: 4-109740563-A-T
• gnomAD v4: 4-109740563-A-T
• MyVariant Identifiers: chr4:g.110661719A>T (hg19) ; chr4:g.109740563A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740563A>T , CM000666.2:g.109740563A>T	GRCh38
NC_000004.11:g.110661719A>T , CM000666.1:g.110661719A>T	GRCh37
NC_000004.10:g.110881168A>T	NCBI36
NG_007569.1:g.66423T>A , LRG_48:g.66423T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1928T>A
ENST00000695845.1:n.1712+1928T>A
ENST00000645635.1:c.1534+1928T>A	ENSP00000493607.1:n.1534+1928T>A
XM_011531920.1:c.1558+1928T>A	XP_011530222.1:n.1558+1928T>A
XM_011531920.2:c.1558+1928T>A	XP_011530222.1:n.1558+1928T>A
XM_017008164.2:c.1534+1928T>A	XP_016863653.1:n.1534+1928T>A
XM_017008165.2:c.1513+1928T>A	XP_016863654.1:n.1513+1928T>A
XM_017008166.2:c.1534+1928T>A	XP_016863655.1:n.1534+1928T>A
NM_001375278.1:c.1558+1928T>A	NP_001362207.1:n.1558+1928T>A
NM_001375279.1:c.1534+1928T>A	NP_001362208.1:n.1534+1928T>A
NM_001375280.1:c.1513+1928T>A	NP_001362209.1:n.1513+1928T>A
NM_001375281.1:c.1534+1928T>A	NP_001362210.1:n.1534+1928T>A
NM_001375282.1:c.1513+1928T>A	NP_001362211.1:n.1513+1928T>A