Canonical Allele Identifier: CA221013

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53536
• ClinVar RCV Id: RCV000046646 ; RCV000790809 ; RCV001009498
• dbSNP Id: rs397508414
• ExAC: 7:117242919 T / TA
• gnomAD v2: 7-117242919-T-TA
• gnomAD v3: 7-117602865-T-TA
• gnomAD v4: 7-117602865-T-TA
• MyVariant Identifiers: chr7:g.117242919_117242920insA (hg19) ; chr7:g.117602865_117602866insA (hg38)
• PubMed: PMID:11101688 ; PMID:12000363 ; PMID:12167682 ; PMID:16189704 ; PMID:18195584 ; PMID:20144563 ; PMID:23168765 ; PMID:23891399 ; PMID:23974870 ; PMID:24586523 ; PMID:25066652 ; PMID:26014425 ; PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602865_117602866insA , CM000669.2:g.117602865_117602866insA	GRCh38
NC_000007.13:g.117242919_117242920insA , CM000669.1:g.117242919_117242920insA	GRCh37
NC_000007.12:g.117030155_117030156insA	NCBI36
NG_016465.4:g.142082_142083insA , LRG_663:g.142082_142083insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2657+2_2657+3insA	ENSP00000497673.2:n.2657+2_2657+3insA
ENST00000647978.2:c.*2371+2_*2371+3insA	ENSP00000497658.1:n.*2371+2_*2371+3insA
ENST00000649781.2:c.2474+2_2474+3insA	ENSP00000497203.1:n.2474+2_2474+3insA
ENST00000685018.2:c.2657+2_2657+3insA	ENSP00000510194.2:n.2657+2_2657+3insA
ENST00000687278.2:c.2657+2_2657+3insA	ENSP00000509593.2:n.2657+2_2657+3insA
ENST00000699585.1:c.2657+2_2657+3insA	ENSP00000514456.1:n.2657+2_2657+3insA
ENST00000699598.1:c.2657+2_2657+3insA	ENSP00000514467.1:n.2657+2_2657+3insA
ENST00000699599.1:c.2657+2_2657+3insA	ENSP00000514468.1:n.2657+2_2657+3insA
ENST00000699600.1:c.2657+2_2657+3insA	ENSP00000514469.1:n.2657+2_2657+3insA
ENST00000699601.1:c.*957+2_*957+3insA	ENSP00000514470.1:n.*957+2_*957+3insA
ENST00000699602.1:c.2657+2_2657+3insA	ENSP00000514471.1:n.2657+2_2657+3insA
ENST00000699604.1:c.*2481+2_*2481+3insA	ENSP00000514472.1:n.*2481+2_*2481+3insA
ENST00000699605.1:c.2231+2_2231+3insA	ENSP00000514473.1:n.2231+2_2231+3insA
ENST00000687278.1:c.248+2_248+3insA	ENSP00000509593.1:n.248+2_248+3insA
ENST00000003084.11:c.2657+2_2657+3insA MANE Select	ENSP00000003084.6:n.2657+2_2657+3insA
ENST00000647720.1:c.307+2_307+3insA
ENST00000648260.1:c.1439+2_1439+3insA	ENSP00000497957.1:n.1439+2_1439+3insA
ENST00000649406.1:c.2474+2_2474+3insA	ENSP00000497965.1:n.2474+2_2474+3insA
ENST00000649781.1:c.2474+2_2474+3insA	ENSP00000497203.1:n.2474+2_2474+3insA
ENST00000003084.10:c.2657+2_2657+3insA	ENSP00000003084.6:n.2657+2_2657+3insA
ENST00000426809.5:c.2567+2_2567+3insA	ENSP00000389119.1:n.2567+2_2567+3insA
NM_000492.3:c.2657+2_2657+3insA , LRG_663t1:c.2657+2_2657+3insA	NP_000483.3:n.2657+2_2657+3insA
XM_011515751.1:c.2747+2_2747+3insA	XP_011514053.1:n.2747+2_2747+3insA
XM_011515752.1:c.2747+2_2747+3insA	XP_011514054.1:n.2747+2_2747+3insA
XM_011515753.1:c.2414+2_2414+3insA	XP_011514055.1:n.2414+2_2414+3insA
XM_011515754.1:c.2414+2_2414+3insA	XP_011514056.1:n.2414+2_2414+3insA
NM_000492.4:c.2657+2_2657+3insA MANE Select	NP_000483.3:n.2657+2_2657+3insA