Canonical Allele Identifier: CA1106293270

Gene: CFTR

Linked Data

• dbSNP Id: rs1798474823
• gnomAD v3: 7-117509233-G-GT
• gnomAD v4: 7-117509233-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509234dup , CM000669.2:g.117509234dup	GRCh38
NC_000007.13:g.117149288dup , CM000669.1:g.117149288dup	GRCh37
NC_000007.12:g.116936524dup	NCBI36
NG_016465.4:g.48451dup , LRG_663:g.48451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.273+92dup	ENSP00000497673.2:n.273+92dup
ENST00000647978.2:c.*170+92dup	ENSP00000497658.1:n.*170+92dup
ENST00000649781.2:c.273+92dup	ENSP00000497203.1:n.273+92dup
ENST00000649850.2:c.*262dup	ENSP00000514457.1:n.*262dup
ENST00000685018.2:c.273+92dup	ENSP00000510194.2:n.273+92dup
ENST00000687278.2:c.273+92dup	ENSP00000509593.2:n.273+92dup
ENST00000699585.1:c.273+92dup	ENSP00000514456.1:n.273+92dup
ENST00000699596.1:c.273+92dup	ENSP00000514465.1:n.273+92dup
ENST00000699597.1:c.273+92dup	ENSP00000514466.1:n.273+92dup
ENST00000699598.1:c.273+92dup	ENSP00000514467.1:n.273+92dup
ENST00000699599.1:c.273+92dup	ENSP00000514468.1:n.273+92dup
ENST00000699600.1:c.273+92dup	ENSP00000514469.1:n.273+92dup
ENST00000699601.1:c.273+92dup	ENSP00000514470.1:n.273+92dup
ENST00000699602.1:c.273+92dup	ENSP00000514471.1:n.273+92dup
ENST00000699604.1:c.*97+92dup	ENSP00000514472.1:n.*97+92dup
ENST00000699605.1:c.30+92dup	ENSP00000514473.1:n.30+92dup
ENST00000446805.2:c.30+92dup	ENSP00000417012.1:n.30+92dup
ENST00000003084.11:c.273+92dup MANE Select	ENSP00000003084.6:n.273+92dup
ENST00000647639.1:n.357+92dup
ENST00000647978.1:c.*170+92dup	ENSP00000497658.1:n.*170+92dup
ENST00000648260.1:c.273+92dup	ENSP00000497957.1:n.273+92dup
ENST00000649406.1:c.273+92dup	ENSP00000497965.1:n.273+92dup
ENST00000649781.1:c.273+92dup	ENSP00000497203.1:n.273+92dup
ENST00000649850.1:n.522dup
ENST00000673785.1:c.30+92dup	ENSP00000501235.1:n.30+92dup
ENST00000003084.10:c.273+92dup	ENSP00000003084.6:n.273+92dup
ENST00000426809.5:c.273+92dup	ENSP00000389119.1:n.273+92dup
ENST00000446805.1:c.30+92dup	ENSP00000417012.1:n.30+92dup
NM_000492.3:c.273+92dup , LRG_663t1:c.273+92dup	NP_000483.3:n.273+92dup
XM_011515751.1:c.363+92dup	XP_011514053.1:n.363+92dup
XM_011515752.1:c.363+92dup	XP_011514054.1:n.363+92dup
XM_011515753.1:c.30+92dup	XP_011514055.1:n.30+92dup
XM_011515754.1:c.30+92dup	XP_011514056.1:n.30+92dup
NM_000492.4:c.273+92dup MANE Select	NP_000483.3:n.273+92dup