Canonical Allele Identifier: CA175538

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 229652
• ClinVar RCV Id: RCV000156213 ; RCV000837302 ; RCV001009360 ; RCV002500720
• dbSNP Id: rs3832534
• ExAC: 7:117188660 A / ATG
• gnomAD v2: 7-117188660-A-ATG
• gnomAD v3: 7-117548606-A-ATG
• gnomAD v4: 7-117548606-A-ATG
• MyVariant Identifiers: chr7:g.117188683_117188684insGT (hg19) ; chr7:g.117188666_117188667insTG (hg19) ; chr7:g.117188660_117188661insTG (hg19) ; chr7:g.117548629_117548630insGT (hg38) ; chr7:g.117548612_117548613insTG (hg38) ; chr7:g.117548606_117548607insTG (hg38)
• PubMed: PMID:9435322 ; PMID:14685937 ; PMID:17314234 ; PMID:22427236 ; PMID:23092102

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548628_117548629dup , CM000669.2:g.117548628_117548629dup	GRCh38
NC_000007.13:g.117188682_117188683dup , CM000669.1:g.117188682_117188683dup	GRCh37
NC_000007.12:g.116975918_116975919dup	NCBI36
NG_016465.4:g.87845_87846dup , LRG_663:g.87845_87846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1210-13_1210-12dup (CFTR)	ENSP00000497673.2:n.1210-13_1210-12dup
ENST00000647978.2:c.*1106+6520_*1106+6521dup (CFTR)	ENSP00000497658.1:n.*1106+6520_*1106+6521dup
ENST00000649781.2:c.1209+6520_1209+6521dup (CFTR)	ENSP00000497203.1:n.1209+6520_1209+6521dup
ENST00000685018.2:c.1210-13_1210-12dup (CFTR)	ENSP00000510194.2:n.1210-13_1210-12dup
ENST00000687278.2:c.1210-13_1210-12dup (CFTR)	ENSP00000509593.2:n.1210-13_1210-12dup
ENST00000699585.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514456.1:n.1210-13_1210-12dup
ENST00000699596.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514465.1:n.1210-13_1210-12dup
ENST00000699597.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514466.1:n.1210-13_1210-12dup
ENST00000699598.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514467.1:n.1210-13_1210-12dup
ENST00000699599.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514468.1:n.1210-13_1210-12dup
ENST00000699600.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514469.1:n.1210-13_1210-12dup
ENST00000699601.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514470.1:n.1210-13_1210-12dup
ENST00000699602.1:c.1210-13_1210-12dup (CFTR)	ENSP00000514471.1:n.1210-13_1210-12dup
ENST00000699604.1:c.*1034-13_*1034-12dup (CFTR)	ENSP00000514472.1:n.*1034-13_*1034-12dup
ENST00000699605.1:c.966+6520_966+6521dup (CFTR)	ENSP00000514473.1:n.966+6520_966+6521dup
ENST00000003084.11:c.1210-13_1210-12dup (CFTR) MANE Select	ENSP00000003084.6:n.1210-13_1210-12dup
ENST00000647978.1:c.*1106+6520_*1106+6521dup (CFTR)	ENSP00000497658.1:n.*1106+6520_*1106+6521dup
ENST00000648260.1:c.1209+6520_1209+6521dup (CFTR)	ENSP00000497957.1:n.1209+6520_1209+6521dup
ENST00000649406.1:c.1209+6520_1209+6521dup (CFTR)	ENSP00000497965.1:n.1209+6520_1209+6521dup
ENST00000649781.1:c.1209+6520_1209+6521dup (CFTR)	ENSP00000497203.1:n.1209+6520_1209+6521dup
ENST00000673785.1:c.967-13_967-12dup (CFTR)	ENSP00000501235.1:n.967-13_967-12dup
ENST00000003084.10:c.1210-13_1210-12dup (CFTR)	ENSP00000003084.6:n.1210-13_1210-12dup
ENST00000426809.5:c.1120-13_1120-12dup (CFTR)	ENSP00000389119.1:n.1120-13_1120-12dup
NM_000492.3:c.1210-13_1210-12dup , LRG_663t1:c.1210-13_1210-12dup (CFTR)	NP_000483.3:n.1210-13_1210-12dup
XM_011515751.1:c.1300-13_1300-12dup (CFTR)	XP_011514053.1:n.1300-13_1300-12dup
XM_011515752.1:c.1300-13_1300-12dup (CFTR)	XP_011514054.1:n.1300-13_1300-12dup
XM_011515753.1:c.967-13_967-12dup (CFTR)	XP_011514055.1:n.967-13_967-12dup
XM_011515754.1:c.967-13_967-12dup (CFTR)	XP_011514056.1:n.967-13_967-12dup
NR_149084.1:n.222-6069_222-6068dup (CFTR-AS1)
NM_000492.4:c.1210-13_1210-12dup (CFTR) MANE Select	NP_000483.3:n.1210-13_1210-12dup