Canonical Allele Identifier: CA274185

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 188958
• ClinVar RCV Id: RCV000169333 ; RCV000224712 ; RCV001826867 ; RCV002492691 ; RCV003474906
• dbSNP Id: rs397508189
• ExAC: 7:117188810 A / AAGAT
• gnomAD v2: 7-117188810-A-AAGAT
• gnomAD v3: 7-117548756-A-AAGAT
• gnomAD v4: 7-117548756-A-AAGAT
• MyVariant Identifiers: chr7:g.117188812_117188815dupGATA (hg19) ; chr7:g.117188810_117188811insAGAT (hg19) ; chr7:g.117548758_117548761dupGATA (hg38) ; chr7:g.117548756_117548757insAGAT (hg38)
• PubMed: PMID:7537150 ; PMID:12454843 ; PMID:12815607 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548758_117548761dup , CM000669.2:g.117548758_117548761dup	GRCh38
NC_000007.13:g.117188812_117188815dup , CM000669.1:g.117188812_117188815dup	GRCh37
NC_000007.12:g.116976048_116976051dup	NCBI36
NG_016465.4:g.87975_87978dup , LRG_663:g.87975_87978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1327_1330dup (CFTR)	ENSP00000497673.2:p.Ile444ArgfsTer3
ENST00000647978.2:c.*1106+6650_*1106+6653dup (CFTR)	ENSP00000497658.1:n.*1106+6650_*1106+6653dup
ENST00000649781.2:c.1209+6650_1209+6653dup (CFTR)	ENSP00000497203.1:n.1209+6650_1209+6653dup
ENST00000685018.2:c.1327_1330dup (CFTR)	ENSP00000510194.2:p.Ile444ArgfsTer3
ENST00000687278.2:c.1327_1330dup (CFTR)	ENSP00000509593.2:p.Ile444ArgfsTer3
ENST00000699585.1:c.1327_1330dup (CFTR)	ENSP00000514456.1:p.Ile444ArgfsTer3
ENST00000699596.1:c.1327_1330dup (CFTR)	ENSP00000514465.1:p.Ile444ArgfsTer3
ENST00000699597.1:c.1327_1330dup (CFTR)	ENSP00000514466.1:p.Ile444ArgfsTer3
ENST00000699598.1:c.1327_1330dup (CFTR)	ENSP00000514467.1:p.Ile444ArgfsTer3
ENST00000699599.1:c.1327_1330dup (CFTR)	ENSP00000514468.1:p.Ile444ArgfsTer3
ENST00000699600.1:c.1327_1330dup (CFTR)	ENSP00000514469.1:p.Ile444ArgfsTer3
ENST00000699601.1:c.1327_1330dup (CFTR)	ENSP00000514470.1:p.Ile444ArgfsTer3
ENST00000699602.1:c.1327_1330dup (CFTR)	ENSP00000514471.1:p.Ile444ArgfsTer3
ENST00000699604.1:c.*1151_*1154dup (CFTR)	ENSP00000514472.1:n.*1151_*1154dup
ENST00000699605.1:c.966+6650_966+6653dup (CFTR)	ENSP00000514473.1:n.966+6650_966+6653dup
ENST00000003084.11:c.1327_1330dup (CFTR) MANE Select	ENSP00000003084.6:p.Ile444ArgfsTer3
ENST00000647978.1:c.*1106+6650_*1106+6653dup (CFTR)	ENSP00000497658.1:n.*1106+6650_*1106+6653dup
ENST00000648260.1:c.1209+6650_1209+6653dup (CFTR)	ENSP00000497957.1:n.1209+6650_1209+6653dup
ENST00000649406.1:c.1209+6650_1209+6653dup (CFTR)	ENSP00000497965.1:n.1209+6650_1209+6653dup
ENST00000649781.1:c.1209+6650_1209+6653dup (CFTR)	ENSP00000497203.1:n.1209+6650_1209+6653dup
ENST00000003084.10:c.1327_1330dup (CFTR)	ENSP00000003084.6:p.Ile444ArgfsTer3
ENST00000426809.5:c.1237_1240dup (CFTR)	ENSP00000389119.1:p.Ile414ArgfsTer3
NM_000492.3:c.1327_1330dup , LRG_663t1:c.1327_1330dup (CFTR)	NP_000483.3:p.Ile444ArgfsTer3
XM_011515751.1:c.1417_1420dup (CFTR)	XP_011514053.1:p.Ile474ArgfsTer3
XM_011515752.1:c.1417_1420dup (CFTR)	XP_011514054.1:p.Ile474ArgfsTer3
XM_011515753.1:c.1084_1087dup (CFTR)	XP_011514055.1:p.Ile363ArgfsTer3
XM_011515754.1:c.1084_1087dup (CFTR)	XP_011514056.1:p.Ile363ArgfsTer3
NR_149084.1:n.222-6221_222-6218dup (CFTR-AS1)
NM_000492.4:c.1327_1330dup (CFTR) MANE Select	NP_000483.3:p.Ile444ArgfsTer3