Canonical Allele Identifier: CA3042112

Gene: CFI

Linked Data

• dbSNP Id: rs748342953
• ExAC: 4:110678957 A / C
• MyVariant Identifiers: chr4:g.110678957A>C (hg19) ; chr4:g.109757801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757801A>C , CM000666.2:g.109757801A>C	GRCh38
NC_000004.11:g.110678957A>C , CM000666.1:g.110678957A>C	GRCh37
NC_000004.10:g.110898406A>C	NCBI36
NG_007569.1:g.49185T>G , LRG_48:g.49185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1063-18T>G
ENST00000695845.1:n.1062-18T>G
ENST00000695846.1:n.908-18T>G
ENST00000394634.7:c.884-18T>G MANE Select	ENSP00000378130.2:n.884-18T>G
ENST00000394635.8:c.908-18T>G	ENSP00000378131.3:n.908-18T>G
ENST00000645635.1:c.884-18T>G	ENSP00000493607.1:n.884-18T>G
ENST00000394634.6:c.884-18T>G	ENSP00000378130.2:n.884-18T>G
ENST00000394635.7:c.908-18T>G	ENSP00000378131.3:n.908-18T>G
ENST00000504853.3:n.1301-18T>G
ENST00000512148.5:c.883+2469T>G	ENSP00000427438.1:n.883+2469T>G
ENST00000618244.4:c.884-18T>G	ENSP00000483416.1:n.884-18T>G
NM_000204.3:c.884-18T>G , LRG_48t1:c.884-18T>G	NP_000195.2:n.884-18T>G
XM_005262975.1:c.908-18T>G	XP_005263032.1:n.908-18T>G
XM_005262976.1:c.883+2469T>G	XP_005263033.1:n.883+2469T>G
XM_006714209.1:c.905-18T>G	XP_006714272.1:n.905-18T>G
XM_006714210.2:c.908-18T>G	XP_006714273.1:n.908-18T>G
XM_011531920.1:c.908-18T>G	XP_011530222.1:n.908-18T>G
NM_000204.4:c.884-18T>G	NP_000195.2:n.884-18T>G
NM_001318057.1:c.908-18T>G	NP_001304986.1:n.908-18T>G
NM_001331035.1:c.883+2469T>G	NP_001317964.1:n.883+2469T>G
XM_006714210.4:c.908-18T>G	XP_006714273.1:n.908-18T>G
XM_011531920.2:c.908-18T>G	XP_011530222.1:n.908-18T>G
XM_017008164.2:c.884-18T>G	XP_016863653.1:n.884-18T>G
XM_017008165.2:c.883+2469T>G	XP_016863654.1:n.883+2469T>G
XM_017008166.2:c.884-18T>G	XP_016863655.1:n.884-18T>G
NM_001318057.2:c.908-18T>G	NP_001304986.2:n.908-18T>G
NM_001331035.2:c.883+2469T>G	NP_001317964.1:n.883+2469T>G
NM_001375278.1:c.908-18T>G	NP_001362207.1:n.908-18T>G
NM_001375279.1:c.884-18T>G	NP_001362208.1:n.884-18T>G
NM_001375280.1:c.883+2469T>G	NP_001362209.1:n.883+2469T>G
NM_001375281.1:c.884-18T>G	NP_001362210.1:n.884-18T>G
NM_001375282.1:c.883+2469T>G	NP_001362211.1:n.883+2469T>G
NM_001375283.1:c.883+2469T>G	NP_001362212.1:n.883+2469T>G
NM_001375284.1:c.275-18T>G	NP_001362213.1:n.275-18T>G
NR_164671.1:n.912-18T>G
NR_164672.1:n.936-18T>G
NR_164673.1:n.912-18T>G
NM_000204.5:c.884-18T>G MANE Select	NP_000195.3:n.884-18T>G