Canonical Allele Identifier: CA1737384539

Gene: CFTR

Linked Data

• dbSNP Id: rs1792364386
• gnomAD v4: 7-117610436-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610439_117610441del , CM000669.2:g.117610439_117610441del	GRCh38
NC_000007.13:g.117250493_117250495del , CM000669.1:g.117250493_117250495del	GRCh37
NC_000007.12:g.117037729_117037731del	NCBI36
NG_016465.4:g.149656_149658del , LRG_663:g.149656_149658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989-80_2989-78del	ENSP00000497673.2:n.2989-80_2989-78del
ENST00000647978.2:c.*2703-80_*2703-78del	ENSP00000497658.1:n.*2703-80_*2703-78del
ENST00000649781.2:c.2806-80_2806-78del	ENSP00000497203.1:n.2806-80_2806-78del
ENST00000685018.2:c.2989-80_2989-78del	ENSP00000510194.2:n.2989-80_2989-78del
ENST00000687278.2:c.2989-80_2989-78del	ENSP00000509593.2:n.2989-80_2989-78del
ENST00000699585.1:c.2989-80_2989-78del	ENSP00000514456.1:n.2989-80_2989-78del
ENST00000699598.1:c.2989-80_2989-78del	ENSP00000514467.1:n.2989-80_2989-78del
ENST00000699599.1:c.2989-80_2989-78del	ENSP00000514468.1:n.2989-80_2989-78del
ENST00000699600.1:c.2989-80_2989-78del	ENSP00000514469.1:n.2989-80_2989-78del
ENST00000699601.1:c.*1289-80_*1289-78del	ENSP00000514470.1:n.*1289-80_*1289-78del
ENST00000699602.1:c.2989-80_2989-78del	ENSP00000514471.1:n.2989-80_2989-78del
ENST00000699604.1:c.*2813-80_*2813-78del	ENSP00000514472.1:n.*2813-80_*2813-78del
ENST00000699605.1:c.2563-80_2563-78del	ENSP00000514473.1:n.2563-80_2563-78del
ENST00000687278.1:c.580-80_580-78del	ENSP00000509593.1:n.580-80_580-78del
ENST00000003084.11:c.2989-80_2989-78del MANE Select	ENSP00000003084.6:n.2989-80_2989-78del
ENST00000647720.1:c.639-80_639-78del
ENST00000648260.1:c.1771-80_1771-78del	ENSP00000497957.1:n.1771-80_1771-78del
ENST00000649406.1:c.2806-80_2806-78del	ENSP00000497965.1:n.2806-80_2806-78del
ENST00000649781.1:c.2806-80_2806-78del	ENSP00000497203.1:n.2806-80_2806-78del
ENST00000003084.10:c.2989-80_2989-78del	ENSP00000003084.6:n.2989-80_2989-78del
ENST00000426809.5:c.2899-80_2899-78del	ENSP00000389119.1:n.2899-80_2899-78del
NM_000492.3:c.2989-80_2989-78del , LRG_663t1:c.2989-80_2989-78del	NP_000483.3:n.2989-80_2989-78del
XM_011515751.1:c.3079-80_3079-78del	XP_011514053.1:n.3079-80_3079-78del
XM_011515752.1:c.3079-80_3079-78del	XP_011514054.1:n.3079-80_3079-78del
XM_011515753.1:c.2746-80_2746-78del	XP_011514055.1:n.2746-80_2746-78del
XM_011515754.1:c.2746-80_2746-78del	XP_011514056.1:n.2746-80_2746-78del
NM_000492.4:c.2989-80_2989-78del MANE Select	NP_000483.3:n.2989-80_2989-78del