Canonical Allele Identifier: CA221021

Gene: CFTR

Linked Data

• ClinVar Variation Id: 38480
• ClinVar RCV Id: RCV000046775 ; RCV000757083 ; RCV001004289 ; RCV001826528
• dbSNP Id: rs121908767
• ExAC: 7:117250646 CAGTGAT / C
• gnomAD v2: 7-117250646-CAGTGAT-C
• gnomAD v3: 7-117610592-CAGTGAT-C
• gnomAD v4: 7-117610592-CAGTGAT-C
• MyVariant Identifiers: chr7:g.117250651_117250656del (hg19) ; chr7:g.117250647_117250652del (hg19) ; chr7:g.117250651_117250656delATAGTG (hg19) ; chr7:g.117610597_117610602del (hg38) ; chr7:g.117610593_117610598del (hg38)
• PubMed: PMID:7516234 ; PMID:8707304 ; PMID:10798368 ; PMID:11668613 ; PMID:12172395 ; PMID:12394343 ; PMID:15287992 ; PMID:15371902 ; PMID:15371903 ; PMID:15371907 ; PMID:15638824 ; PMID:15698946 ; PMID:18456578 ; PMID:22020151 ; PMID:22627569 ; PMID:26146130 ; PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610597_117610602del , CM000669.2:g.117610597_117610602del	GRCh38
NC_000007.13:g.117250651_117250656del , CM000669.1:g.117250651_117250656del	GRCh37
NC_000007.12:g.117037887_117037892del	NCBI36
NG_016465.4:g.149814_149819del , LRG_663:g.149814_149819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3067_3072del	ENSP00000497673.2:p.Ile1023_Val1024del
ENST00000647978.2:c.*2781_*2786del	ENSP00000497658.1:n.*2781_*2786del
ENST00000649781.2:c.2884_2889del	ENSP00000497203.1:p.Ile962_Val963del
ENST00000685018.2:c.3067_3072del	ENSP00000510194.2:p.Ile1023_Val1024del
ENST00000687278.2:c.3067_3072del	ENSP00000509593.2:p.Ile1023_Val1024del
ENST00000699585.1:c.3067_3072del	ENSP00000514456.1:p.Ile1023_Val1024del
ENST00000699598.1:c.3067_3072del	ENSP00000514467.1:p.Ile1023_Val1024del
ENST00000699599.1:c.3067_3072del	ENSP00000514468.1:p.Ile1023_Val1024del
ENST00000699600.1:c.3067_3072del	ENSP00000514469.1:p.Ile1023_Val1024del
ENST00000699601.1:c.*1367_*1372del	ENSP00000514470.1:n.*1367_*1372del
ENST00000699602.1:c.3067_3072del	ENSP00000514471.1:p.Ile1023_Val1024del
ENST00000699604.1:c.*2891_*2896del	ENSP00000514472.1:n.*2891_*2896del
ENST00000699605.1:c.2641_2646del	ENSP00000514473.1:p.Ile881_Val882del
ENST00000687278.1:c.658_663del	ENSP00000509593.1:p.Ile220_Val221del
ENST00000003084.11:c.3067_3072del MANE Select	ENSP00000003084.6:p.Ile1023_Val1024del
ENST00000647720.1:c.717_722del
ENST00000648260.1:c.1849_1854del	ENSP00000497957.1:p.Ile617_Val618del
ENST00000649406.1:c.2884_2889del	ENSP00000497965.1:p.Ile962_Val963del
ENST00000649781.1:c.2884_2889del	ENSP00000497203.1:p.Ile962_Val963del
ENST00000003084.10:c.3067_3072del	ENSP00000003084.6:p.Ile1023_Val1024del
ENST00000426809.5:c.2977_2982del	ENSP00000389119.1:p.Ile993_Val994del
NM_000492.3:c.3067_3072del , LRG_663t1:c.3067_3072del	NP_000483.3:p.Ile1023_Val1024del
XM_011515751.1:c.3157_3162del	XP_011514053.1:p.Ile1053_Val1054del
XM_011515752.1:c.3157_3162del	XP_011514054.1:p.Ile1053_Val1054del
XM_011515753.1:c.2824_2829del	XP_011514055.1:p.Ile942_Val943del
XM_011515754.1:c.2824_2829del	XP_011514056.1:p.Ile942_Val943del
NM_000492.4:c.3067_3072del MANE Select	NP_000483.3:p.Ile1023_Val1024del