Canonical Allele Identifier: CA103699836

Gene: CFI

Linked Data

• ClinVar Variation Id: 1235745
• ClinVar RCV Id: RCV001619343
• dbSNP Id: rs7671905
• gnomAD v2: 4-110722886-T-C
• gnomAD v3: 4-109801730-T-C
• gnomAD v4: 4-109801730-T-C
• MyVariant Identifiers: chr4:g.110722886T>C (hg19) ; chr4:g.109801730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109801730T>C , CM000666.2:g.109801730T>C	GRCh38
NC_000004.11:g.110722886T>C , CM000666.1:g.110722886T>C	GRCh37
NC_000004.10:g.110942335T>C	NCBI36
NG_007569.1:g.5256A>G , LRG_48:g.5256A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.236+185A>G
ENST00000695845.1:n.235+185A>G
ENST00000394634.7:c.57+185A>G MANE Select	ENSP00000378130.2:n.57+185A>G
ENST00000394635.8:c.57+185A>G	ENSP00000378131.3:n.57+185A>G
ENST00000643384.1:n.85+185A>G
ENST00000645635.1:c.57+185A>G	ENSP00000493607.1:n.57+185A>G
ENST00000394634.6:c.57+185A>G	ENSP00000378130.2:n.57+185A>G
ENST00000394635.7:c.57+185A>G	ENSP00000378131.3:n.57+185A>G
ENST00000510800.1:c.57+185A>G	ENSP00000422009.1:n.57+185A>G
ENST00000512148.5:c.57+185A>G	ENSP00000427438.1:n.57+185A>G
ENST00000618244.4:c.57+185A>G	ENSP00000483416.1:n.57+185A>G
NM_000204.3:c.57+185A>G , LRG_48t1:c.57+185A>G	NP_000195.2:n.57+185A>G
XM_005262975.1:c.57+185A>G	XP_005263032.1:n.57+185A>G
XM_005262976.1:c.57+185A>G	XP_005263033.1:n.57+185A>G
XM_006714209.1:c.57+185A>G	XP_006714272.1:n.57+185A>G
XM_006714210.2:c.57+185A>G	XP_006714273.1:n.57+185A>G
XM_011531920.1:c.57+185A>G	XP_011530222.1:n.57+185A>G
NM_000204.4:c.57+185A>G	NP_000195.2:n.57+185A>G
NM_001318057.1:c.57+185A>G	NP_001304986.1:n.57+185A>G
NM_001331035.1:c.57+185A>G	NP_001317964.1:n.57+185A>G
XM_006714210.4:c.57+185A>G	XP_006714273.1:n.57+185A>G
XM_011531920.2:c.57+185A>G	XP_011530222.1:n.57+185A>G
XM_017008164.2:c.57+185A>G	XP_016863653.1:n.57+185A>G
XM_017008165.2:c.57+185A>G	XP_016863654.1:n.57+185A>G
XM_017008166.2:c.57+185A>G	XP_016863655.1:n.57+185A>G
NM_001318057.2:c.57+185A>G	NP_001304986.2:n.57+185A>G
NM_001331035.2:c.57+185A>G	NP_001317964.1:n.57+185A>G
NM_001375278.1:c.57+185A>G	NP_001362207.1:n.57+185A>G
NM_001375279.1:c.57+185A>G	NP_001362208.1:n.57+185A>G
NM_001375280.1:c.57+185A>G	NP_001362209.1:n.57+185A>G
NM_001375281.1:c.57+185A>G	NP_001362210.1:n.57+185A>G
NM_001375282.1:c.57+185A>G	NP_001362211.1:n.57+185A>G
NM_001375283.1:c.57+185A>G	NP_001362212.1:n.57+185A>G
NM_001375284.1:c.-128+185A>G	NP_001362213.1:n.-128+185A>G
NR_164671.1:n.85+185A>G
NR_164672.1:n.85+185A>G
NR_164673.1:n.85+185A>G
NM_000204.5:c.57+185A>G MANE Select	NP_000195.3:n.57+185A>G