Canonical Allele Identifier: CA577215204

Gene: CFTR

Linked Data

• gnomAD v2: 7-117182176-A-ATG
• MyVariant Identifiers: chr7:g.117182176_117182177insTG (hg19) ; chr7:g.117542122_117542123insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542122_117542123insTG , CM000669.2:g.117542122_117542123insTG	GRCh38
NC_000007.13:g.117182176_117182177insTG , CM000669.1:g.117182176_117182177insTG	GRCh37
NC_000007.12:g.116969412_116969413insTG	NCBI36
NG_016465.4:g.81339_81340insTG , LRG_663:g.81339_81340insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1209+14_1209+15insTG	ENSP00000497673.2:n.1209+14_1209+15insTG
ENST00000647978.2:c.*1106+14_*1106+15insTG	ENSP00000497658.1:n.*1106+14_*1106+15insTG
ENST00000649781.2:c.1209+14_1209+15insTG	ENSP00000497203.1:n.1209+14_1209+15insTG
ENST00000685018.2:c.1209+14_1209+15insTG	ENSP00000510194.2:n.1209+14_1209+15insTG
ENST00000687278.2:c.1209+14_1209+15insTG	ENSP00000509593.2:n.1209+14_1209+15insTG
ENST00000699585.1:c.1209+14_1209+15insTG	ENSP00000514456.1:n.1209+14_1209+15insTG
ENST00000699596.1:c.1209+14_1209+15insTG	ENSP00000514465.1:n.1209+14_1209+15insTG
ENST00000699597.1:c.1209+14_1209+15insTG	ENSP00000514466.1:n.1209+14_1209+15insTG
ENST00000699598.1:c.1209+14_1209+15insTG	ENSP00000514467.1:n.1209+14_1209+15insTG
ENST00000699599.1:c.1209+14_1209+15insTG	ENSP00000514468.1:n.1209+14_1209+15insTG
ENST00000699600.1:c.1209+14_1209+15insTG	ENSP00000514469.1:n.1209+14_1209+15insTG
ENST00000699601.1:c.1209+14_1209+15insTG	ENSP00000514470.1:n.1209+14_1209+15insTG
ENST00000699602.1:c.1209+14_1209+15insTG	ENSP00000514471.1:n.1209+14_1209+15insTG
ENST00000699604.1:c.*1033+14_*1033+15insTG	ENSP00000514472.1:n.*1033+14_*1033+15insTG
ENST00000699605.1:c.966+14_966+15insTG	ENSP00000514473.1:n.966+14_966+15insTG
ENST00000003084.11:c.1209+14_1209+15insTG MANE Select	ENSP00000003084.6:n.1209+14_1209+15insTG
ENST00000647978.1:c.*1106+14_*1106+15insTG	ENSP00000497658.1:n.*1106+14_*1106+15insTG
ENST00000648260.1:c.1209+14_1209+15insTG	ENSP00000497957.1:n.1209+14_1209+15insTG
ENST00000649406.1:c.1209+14_1209+15insTG	ENSP00000497965.1:n.1209+14_1209+15insTG
ENST00000649781.1:c.1209+14_1209+15insTG	ENSP00000497203.1:n.1209+14_1209+15insTG
ENST00000673785.1:c.966+14_966+15insTG	ENSP00000501235.1:n.966+14_966+15insTG
ENST00000003084.10:c.1209+14_1209+15insTG	ENSP00000003084.6:n.1209+14_1209+15insTG
ENST00000426809.5:c.1119+14_1119+15insTG	ENSP00000389119.1:n.1119+14_1119+15insTG
NM_000492.3:c.1209+14_1209+15insTG , LRG_663t1:c.1209+14_1209+15insTG	NP_000483.3:n.1209+14_1209+15insTG
XM_011515751.1:c.1299+14_1299+15insTG	XP_011514053.1:n.1299+14_1299+15insTG
XM_011515752.1:c.1299+14_1299+15insTG	XP_011514054.1:n.1299+14_1299+15insTG
XM_011515753.1:c.966+14_966+15insTG	XP_011514055.1:n.966+14_966+15insTG
XM_011515754.1:c.966+14_966+15insTG	XP_011514056.1:n.966+14_966+15insTG
NM_000492.4:c.1209+14_1209+15insTG MANE Select	NP_000483.3:n.1209+14_1209+15insTG