Canonical Allele Identifier: CA357856721

Gene: CFI

Linked Data

• gnomAD v4: 4-109746287-G-A
• MyVariant Identifiers: chr4:g.110667443G>A (hg19) ; chr4:g.109746287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746287G>A , CM000666.2:g.109746287G>A	GRCh38
NC_000004.11:g.110667443G>A , CM000666.1:g.110667443G>A	GRCh37
NC_000004.10:g.110886892G>A	NCBI36
NG_007569.1:g.60699C>T , LRG_48:g.60699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1543C>T
ENST00000695845.1:n.1542C>T
ENST00000695846.1:n.1388C>T
ENST00000394634.7:c.1364C>T MANE Select	ENSP00000378130.2:p.Pro455Leu
ENST00000394635.8:c.1388C>T	ENSP00000378131.3:p.Pro463Leu
ENST00000645635.1:c.1364C>T	ENSP00000493607.1:p.Pro455Leu
ENST00000394634.6:c.1364C>T	ENSP00000378130.2:p.Pro455Leu
ENST00000394635.7:c.1388C>T	ENSP00000378131.3:p.Pro463Leu
ENST00000504853.3:n.1781C>T
ENST00000512148.5:c.1343C>T	ENSP00000427438.1:p.Pro448Leu
ENST00000515512.1:n.6C>T
ENST00000618244.4:c.1044+3212C>T	ENSP00000483416.1:n.1044+3212C>T
NM_000204.3:c.1364C>T , LRG_48t1:c.1364C>T	NP_000195.2:p.Pro455Leu
XM_005262975.1:c.1388C>T	XP_005263032.1:p.Pro463Leu
XM_005262976.1:c.1343C>T	XP_005263033.1:p.Pro448Leu
XM_006714209.1:c.1385C>T	XP_006714272.1:p.Pro462Leu
XM_006714210.2:c.1388C>T	XP_006714273.1:p.Pro463Leu
XM_011531920.1:c.1388C>T	XP_011530222.1:p.Pro463Leu
NM_000204.4:c.1364C>T	NP_000195.2:p.Pro455Leu
NM_001318057.1:c.1388C>T	NP_001304986.1:p.Pro463Leu
NM_001331035.1:c.1343C>T	NP_001317964.1:p.Pro448Leu
XM_006714210.4:c.1388C>T	XP_006714273.1:p.Pro463Leu
XM_011531920.2:c.1388C>T	XP_011530222.1:p.Pro463Leu
XM_017008164.2:c.1364C>T	XP_016863653.1:p.Pro455Leu
XM_017008165.2:c.1343C>T	XP_016863654.1:p.Pro448Leu
XM_017008166.2:c.1364C>T	XP_016863655.1:p.Pro455Leu
NM_001318057.2:c.1388C>T	NP_001304986.2:p.Pro463Leu
NM_001331035.2:c.1343C>T	NP_001317964.1:p.Pro448Leu
NM_001375278.1:c.1388C>T	NP_001362207.1:p.Pro463Leu
NM_001375279.1:c.1364C>T	NP_001362208.1:p.Pro455Leu
NM_001375280.1:c.1343C>T	NP_001362209.1:p.Pro448Leu
NM_001375281.1:c.1364C>T	NP_001362210.1:p.Pro455Leu
NM_001375282.1:c.1343C>T	NP_001362211.1:p.Pro448Leu
NM_001375283.1:c.1307C>T	NP_001362212.1:p.Pro436Leu
NM_001375284.1:c.755C>T	NP_001362213.1:p.Pro252Leu
NR_164671.1:n.1176+2931C>T
NR_164672.1:n.1414C>T
NR_164673.1:n.1388C>T
NM_000204.5:c.1364C>T MANE Select	NP_000195.3:p.Pro455Leu