Canonical Allele Identifier: CA785224368

Gene: CFI

Linked Data

• dbSNP Id: rs1268625124
• gnomAD v3: 4-109740652-G-A
• gnomAD v4: 4-109740652-G-A
• MyVariant Identifiers: chr4:g.110661808G>A (hg19) ; chr4:g.109740652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740652G>A , CM000666.2:g.109740652G>A	GRCh38
NC_000004.11:g.110661808G>A , CM000666.1:g.110661808G>A	GRCh37
NC_000004.10:g.110881257G>A	NCBI36
NG_007569.1:g.66334C>T , LRG_48:g.66334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1839C>T
ENST00000695845.1:n.1712+1839C>T
ENST00000645635.1:c.1534+1839C>T	ENSP00000493607.1:n.1534+1839C>T
XM_011531920.1:c.1558+1839C>T	XP_011530222.1:n.1558+1839C>T
XM_011531920.2:c.1558+1839C>T	XP_011530222.1:n.1558+1839C>T
XM_017008164.2:c.1534+1839C>T	XP_016863653.1:n.1534+1839C>T
XM_017008165.2:c.1513+1839C>T	XP_016863654.1:n.1513+1839C>T
XM_017008166.2:c.1534+1839C>T	XP_016863655.1:n.1534+1839C>T
NM_001375278.1:c.1558+1839C>T	NP_001362207.1:n.1558+1839C>T
NM_001375279.1:c.1534+1839C>T	NP_001362208.1:n.1534+1839C>T
NM_001375280.1:c.1513+1839C>T	NP_001362209.1:n.1513+1839C>T
NM_001375281.1:c.1534+1839C>T	NP_001362210.1:n.1534+1839C>T
NM_001375282.1:c.1513+1839C>T	NP_001362211.1:n.1513+1839C>T