Canonical Allele Identifier: CA577222027

Gene: CFTR

Linked Data

• dbSNP Id: rs1349549761
• gnomAD v2: 7-117230730-A-AAGG
• gnomAD v3: 7-117590676-A-AAGG
• gnomAD v4: 7-117590676-A-AAGG
• MyVariant Identifiers: chr7:g.117230730_117230731insAGG (hg19) ; chr7:g.117590676_117590677insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590676_117590677insAGG , CM000669.2:g.117590676_117590677insAGG	GRCh38
NC_000007.13:g.117230730_117230731insAGG , CM000669.1:g.117230730_117230731insAGG	GRCh37
NC_000007.12:g.117017966_117017967insAGG	NCBI36
NG_016465.4:g.129893_129894insAGG , LRG_663:g.129893_129894insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+237_1766+238insAGG	ENSP00000497673.2:n.1766+237_1766+238insAGG
ENST00000647978.2:c.*1480+237_*1480+238insAGG	ENSP00000497658.1:n.*1480+237_*1480+238insAGG
ENST00000649781.2:c.1583+237_1583+238insAGG	ENSP00000497203.1:n.1583+237_1583+238insAGG
ENST00000685018.2:c.1766+237_1766+238insAGG	ENSP00000510194.2:n.1766+237_1766+238insAGG
ENST00000687278.2:c.1766+237_1766+238insAGG	ENSP00000509593.2:n.1766+237_1766+238insAGG
ENST00000699585.1:c.1766+237_1766+238insAGG	ENSP00000514456.1:n.1766+237_1766+238insAGG
ENST00000699598.1:c.1766+237_1766+238insAGG	ENSP00000514467.1:n.1766+237_1766+238insAGG
ENST00000699599.1:c.1766+237_1766+238insAGG	ENSP00000514468.1:n.1766+237_1766+238insAGG
ENST00000699600.1:c.1766+237_1766+238insAGG	ENSP00000514469.1:n.1766+237_1766+238insAGG
ENST00000699601.1:c.*66+237_*66+238insAGG	ENSP00000514470.1:n.*66+237_*66+238insAGG
ENST00000699602.1:c.1766+237_1766+238insAGG	ENSP00000514471.1:n.1766+237_1766+238insAGG
ENST00000699604.1:c.*1590+237_*1590+238insAGG	ENSP00000514472.1:n.*1590+237_*1590+238insAGG
ENST00000699605.1:c.1340+237_1340+238insAGG	ENSP00000514473.1:n.1340+237_1340+238insAGG
ENST00000003084.11:c.1766+237_1766+238insAGG MANE Select	ENSP00000003084.6:n.1766+237_1766+238insAGG
ENST00000647978.1:c.*1480+237_*1480+238insAGG	ENSP00000497658.1:n.*1480+237_*1480+238insAGG
ENST00000648260.1:c.1402-12150_1402-12149insAGG	ENSP00000497957.1:n.1402-12150_1402-12149insAGG
ENST00000649406.1:c.1583+237_1583+238insAGG	ENSP00000497965.1:n.1583+237_1583+238insAGG
ENST00000649781.1:c.1583+237_1583+238insAGG	ENSP00000497203.1:n.1583+237_1583+238insAGG
ENST00000003084.10:c.1766+237_1766+238insAGG	ENSP00000003084.6:n.1766+237_1766+238insAGG
ENST00000426809.5:c.1676+237_1676+238insAGG	ENSP00000389119.1:n.1676+237_1676+238insAGG
NM_000492.3:c.1766+237_1766+238insAGG , LRG_663t1:c.1766+237_1766+238insAGG	NP_000483.3:n.1766+237_1766+238insAGG
XM_011515751.1:c.1856+237_1856+238insAGG	XP_011514053.1:n.1856+237_1856+238insAGG
XM_011515752.1:c.1856+237_1856+238insAGG	XP_011514054.1:n.1856+237_1856+238insAGG
XM_011515753.1:c.1523+237_1523+238insAGG	XP_011514055.1:n.1523+237_1523+238insAGG
XM_011515754.1:c.1523+237_1523+238insAGG	XP_011514056.1:n.1523+237_1523+238insAGG
NM_000492.4:c.1766+237_1766+238insAGG MANE Select	NP_000483.3:n.1766+237_1766+238insAGG