Canonical Allele Identifier: CA327160

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53728
• ClinVar RCV Id: RCV000577000 ; RCV001804780 ; RCV002483056
• dbSNP Id: rs397508548
• ExAC: 7:117254667 GAGA / G
• gnomAD v2: 7-117254667-GAGA-G
• gnomAD v4: 7-117614613-GAGA-G
• MyVariant Identifiers: chr7:g.117254670_117254672del (hg19) ; chr7:g.117254668_117254670del (hg19) ; chr7:g.117614616_117614618del (hg38) ; chr7:g.117614614_117614616del (hg38)
• PubMed: PMID:12422349

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614616_117614618del , CM000669.2:g.117614616_117614618del	GRCh38
NC_000007.13:g.117254670_117254672del , CM000669.1:g.117254670_117254672del	GRCh37
NC_000007.12:g.117041906_117041908del	NCBI36
NG_016465.4:g.153833_153835del , LRG_663:g.153833_153835del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3371_3373del	ENSP00000497673.2:p.Glu1124del
ENST00000647978.2:c.*3085_*3087del	ENSP00000497658.1:n.*3085_*3087del
ENST00000649781.2:c.3188_3190del	ENSP00000497203.1:p.Glu1063del
ENST00000685018.2:c.3371_3373del	ENSP00000510194.2:p.Glu1124del
ENST00000687278.2:c.3371_3373del	ENSP00000509593.2:p.Glu1124del
ENST00000699585.1:c.3371_3373del	ENSP00000514456.1:p.Glu1124del
ENST00000699598.1:c.3371_3373del	ENSP00000514467.1:p.Glu1124del
ENST00000699599.1:c.3371_3373del	ENSP00000514468.1:p.Glu1124del
ENST00000699600.1:c.3371_3373del	ENSP00000514469.1:p.Glu1124del
ENST00000699601.1:c.*1746_*1748del	ENSP00000514470.1:n.*1746_*1748del
ENST00000699602.1:c.3368-3_3368-1del	ENSP00000514471.1:n.3368-3_3368-1del
ENST00000699604.1:c.*3195_*3197del	ENSP00000514472.1:n.*3195_*3197del
ENST00000699605.1:c.2945_2947del	ENSP00000514473.1:p.Glu982del
ENST00000685018.1:c.119_121del	ENSP00000510194.1:p.Glu40del
ENST00000687278.1:c.962_964del	ENSP00000509593.1:p.Glu321del
ENST00000003084.11:c.3371_3373del MANE Select	ENSP00000003084.6:p.Glu1124del
ENST00000647720.1:c.1021_1023del
ENST00000648260.1:c.2153_2155del	ENSP00000497957.1:p.Glu718del
ENST00000649406.1:c.3188_3190del	ENSP00000497965.1:p.Glu1063del
ENST00000649781.1:c.3188_3190del	ENSP00000497203.1:p.Glu1063del
ENST00000003084.10:c.3371_3373del	ENSP00000003084.6:p.Glu1124del
ENST00000426809.5:c.3281_3283del	ENSP00000389119.1:p.Glu1094del
ENST00000468795.1:c.196_198del
NM_000492.3:c.3371_3373del , LRG_663t1:c.3371_3373del	NP_000483.3:p.Glu1124del
XM_011515751.1:c.3461_3463del	XP_011514053.1:p.Glu1154del
XM_011515752.1:c.3461_3463del	XP_011514054.1:p.Glu1154del
XM_011515753.1:c.3128_3130del	XP_011514055.1:p.Glu1043del
XM_011515754.1:c.3128_3130del	XP_011514056.1:p.Glu1043del
NM_000492.4:c.3371_3373del MANE Select	NP_000483.3:p.Glu1124del