Canonical Allele Identifier: CA553658232

Gene: CFI

Linked Data

• dbSNP Id: rs1485628182
• gnomAD v2: 4-110678984-G-GA
• gnomAD v3: 4-109757828-G-GA
• gnomAD v4: 4-109757828-G-GA
• MyVariant Identifiers: chr4:g.110678984_110678985insA (hg19) ; chr4:g.109757828_109757829insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757834dup , CM000666.2:g.109757834dup	GRCh38
NC_000004.11:g.110678990dup , CM000666.1:g.110678990dup	GRCh37
NC_000004.10:g.110898439dup	NCBI36
NG_007569.1:g.49157dup , LRG_48:g.49157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1063-46dup
ENST00000695845.1:n.1062-46dup
ENST00000695846.1:n.908-46dup
ENST00000394634.7:c.884-46dup MANE Select	ENSP00000378130.2:n.884-46dup
ENST00000394635.8:c.908-46dup	ENSP00000378131.3:n.908-46dup
ENST00000645635.1:c.884-46dup	ENSP00000493607.1:n.884-46dup
ENST00000394634.6:c.884-46dup	ENSP00000378130.2:n.884-46dup
ENST00000394635.7:c.908-46dup	ENSP00000378131.3:n.908-46dup
ENST00000504853.3:n.1301-46dup
ENST00000512148.5:c.883+2441dup	ENSP00000427438.1:n.883+2441dup
ENST00000618244.4:c.884-46dup	ENSP00000483416.1:n.884-46dup
NM_000204.3:c.884-46dup , LRG_48t1:c.884-46dup	NP_000195.2:n.884-46dup
XM_005262975.1:c.908-46dup	XP_005263032.1:n.908-46dup
XM_005262976.1:c.883+2441dup	XP_005263033.1:n.883+2441dup
XM_006714209.1:c.905-46dup	XP_006714272.1:n.905-46dup
XM_006714210.2:c.908-46dup	XP_006714273.1:n.908-46dup
XM_011531920.1:c.908-46dup	XP_011530222.1:n.908-46dup
NM_000204.4:c.884-46dup	NP_000195.2:n.884-46dup
NM_001318057.1:c.908-46dup	NP_001304986.1:n.908-46dup
NM_001331035.1:c.883+2441dup	NP_001317964.1:n.883+2441dup
XM_006714210.4:c.908-46dup	XP_006714273.1:n.908-46dup
XM_011531920.2:c.908-46dup	XP_011530222.1:n.908-46dup
XM_017008164.2:c.884-46dup	XP_016863653.1:n.884-46dup
XM_017008165.2:c.883+2441dup	XP_016863654.1:n.883+2441dup
XM_017008166.2:c.884-46dup	XP_016863655.1:n.884-46dup
NM_001318057.2:c.908-46dup	NP_001304986.2:n.908-46dup
NM_001331035.2:c.883+2441dup	NP_001317964.1:n.883+2441dup
NM_001375278.1:c.908-46dup	NP_001362207.1:n.908-46dup
NM_001375279.1:c.884-46dup	NP_001362208.1:n.884-46dup
NM_001375280.1:c.883+2441dup	NP_001362209.1:n.883+2441dup
NM_001375281.1:c.884-46dup	NP_001362210.1:n.884-46dup
NM_001375282.1:c.883+2441dup	NP_001362211.1:n.883+2441dup
NM_001375283.1:c.883+2441dup	NP_001362212.1:n.883+2441dup
NM_001375284.1:c.275-46dup	NP_001362213.1:n.275-46dup
NR_164671.1:n.912-46dup
NR_164672.1:n.936-46dup
NR_164673.1:n.912-46dup
NM_000204.5:c.884-46dup MANE Select	NP_000195.3:n.884-46dup