Canonical Allele Identifier: CA357856676

Gene: CFI

Linked Data

• dbSNP Id: rs989210294
• gnomAD v2: 4-110667431-T-A
• gnomAD v3: 4-109746275-T-A
• gnomAD v4: 4-109746275-T-A
• MyVariant Identifiers: chr4:g.110667431T>A (hg19) ; chr4:g.109746275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746275T>A , CM000666.2:g.109746275T>A	GRCh38
NC_000004.11:g.110667431T>A , CM000666.1:g.110667431T>A	GRCh37
NC_000004.10:g.110886880T>A	NCBI36
NG_007569.1:g.60711A>T , LRG_48:g.60711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1555A>T
ENST00000695845.1:n.1554A>T
ENST00000695846.1:n.1400A>T
ENST00000394634.7:c.1376A>T MANE Select	ENSP00000378130.2:p.Tyr459Phe
ENST00000394635.8:c.1400A>T	ENSP00000378131.3:p.Tyr467Phe
ENST00000645635.1:c.1376A>T	ENSP00000493607.1:p.Tyr459Phe
ENST00000394634.6:c.1376A>T	ENSP00000378130.2:p.Tyr459Phe
ENST00000394635.7:c.1400A>T	ENSP00000378131.3:p.Tyr467Phe
ENST00000504853.3:n.1793A>T
ENST00000512148.5:c.1355A>T	ENSP00000427438.1:p.Tyr452Phe
ENST00000515512.1:n.18A>T
ENST00000618244.4:c.1044+3224A>T	ENSP00000483416.1:n.1044+3224A>T
NM_000204.3:c.1376A>T , LRG_48t1:c.1376A>T	NP_000195.2:p.Tyr459Phe
XM_005262975.1:c.1400A>T	XP_005263032.1:p.Tyr467Phe
XM_005262976.1:c.1355A>T	XP_005263033.1:p.Tyr452Phe
XM_006714209.1:c.1397A>T	XP_006714272.1:p.Tyr466Phe
XM_006714210.2:c.1400A>T	XP_006714273.1:p.Tyr467Phe
XM_011531920.1:c.1400A>T	XP_011530222.1:p.Tyr467Phe
NM_000204.4:c.1376A>T	NP_000195.2:p.Tyr459Phe
NM_001318057.1:c.1400A>T	NP_001304986.1:p.Tyr467Phe
NM_001331035.1:c.1355A>T	NP_001317964.1:p.Tyr452Phe
XM_006714210.4:c.1400A>T	XP_006714273.1:p.Tyr467Phe
XM_011531920.2:c.1400A>T	XP_011530222.1:p.Tyr467Phe
XM_017008164.2:c.1376A>T	XP_016863653.1:p.Tyr459Phe
XM_017008165.2:c.1355A>T	XP_016863654.1:p.Tyr452Phe
XM_017008166.2:c.1376A>T	XP_016863655.1:p.Tyr459Phe
NM_001318057.2:c.1400A>T	NP_001304986.2:p.Tyr467Phe
NM_001331035.2:c.1355A>T	NP_001317964.1:p.Tyr452Phe
NM_001375278.1:c.1400A>T	NP_001362207.1:p.Tyr467Phe
NM_001375279.1:c.1376A>T	NP_001362208.1:p.Tyr459Phe
NM_001375280.1:c.1355A>T	NP_001362209.1:p.Tyr452Phe
NM_001375281.1:c.1376A>T	NP_001362210.1:p.Tyr459Phe
NM_001375282.1:c.1355A>T	NP_001362211.1:p.Tyr452Phe
NM_001375283.1:c.1319A>T	NP_001362212.1:p.Tyr440Phe
NM_001375284.1:c.767A>T	NP_001362213.1:p.Tyr256Phe
NR_164671.1:n.1176+2943A>T
NR_164672.1:n.1426A>T
NR_164673.1:n.1400A>T
NM_000204.5:c.1376A>T MANE Select	NP_000195.3:p.Tyr459Phe