Canonical Allele Identifier: CA1066622428

Gene: CFI

Linked Data

• dbSNP Id: rs1723459620
• gnomAD v3: 4-109737886-A-T
• gnomAD v4: 4-109737886-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737886A>T , CM000666.2:g.109737886A>T	GRCh38
NC_000004.11:g.110659042A>T , CM000666.1:g.110659042A>T	GRCh37
NC_000004.10:g.110878491A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-3090T>A
ENST00000695845.1:n.1712+4605T>A
ENST00000645635.1:c.1534+4605T>A	ENSP00000493607.1:n.1534+4605T>A
XM_011531920.1:c.1558+4605T>A	XP_011530222.1:n.1558+4605T>A
XM_011531920.2:c.1558+4605T>A	XP_011530222.1:n.1558+4605T>A
XM_017008164.2:c.1534+4605T>A	XP_016863653.1:n.1534+4605T>A
XM_017008165.2:c.1513+4605T>A	XP_016863654.1:n.1513+4605T>A
XM_017008166.2:c.1535-3086T>A	XP_016863655.1:n.1535-3086T>A
NM_001375278.1:c.1559-3090T>A	NP_001362207.1:n.1559-3090T>A
NM_001375279.1:c.1535-3090T>A	NP_001362208.1:n.1535-3090T>A
NM_001375280.1:c.1514-3090T>A	NP_001362209.1:n.1514-3090T>A
NM_001375281.1:c.1534+4605T>A	NP_001362210.1:n.1534+4605T>A
NM_001375282.1:c.1513+4605T>A	NP_001362211.1:n.1513+4605T>A