Canonical Allele Identifier: CA1106316977

Gene: CFTR

Linked Data

• dbSNP Id: rs1792462800
• gnomAD v3: 7-117614955-GA-G
• gnomAD v4: 7-117614955-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614956del , CM000669.2:g.117614956del	GRCh38
NC_000007.13:g.117255010del , CM000669.1:g.117255010del	GRCh37
NC_000007.12:g.117042246del	NCBI36
NG_016465.4:g.154173del , LRG_663:g.154173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+243del	ENSP00000497673.2:n.3468+243del
ENST00000647978.2:c.*3182+243del	ENSP00000497658.1:n.*3182+243del
ENST00000649781.2:c.3285+243del	ENSP00000497203.1:n.3285+243del
ENST00000685018.2:c.3468+243del	ENSP00000510194.2:n.3468+243del
ENST00000687278.2:c.3468+243del	ENSP00000509593.2:n.3468+243del
ENST00000699585.1:c.3468+243del	ENSP00000514456.1:n.3468+243del
ENST00000699598.1:c.3468+243del	ENSP00000514467.1:n.3468+243del
ENST00000699599.1:c.3468+243del	ENSP00000514468.1:n.3468+243del
ENST00000699600.1:c.3468+243del	ENSP00000514469.1:n.3468+243del
ENST00000699601.1:c.*1843+243del	ENSP00000514470.1:n.*1843+243del
ENST00000699602.1:c.3462+243del	ENSP00000514471.1:n.3462+243del
ENST00000699604.1:c.*3292+243del	ENSP00000514472.1:n.*3292+243del
ENST00000699605.1:c.3042+243del	ENSP00000514473.1:n.3042+243del
ENST00000685018.1:c.216+243del	ENSP00000510194.1:n.216+243del
ENST00000687278.1:c.1059+243del	ENSP00000509593.1:n.1059+243del
ENST00000689011.1:c.50+243del
ENST00000003084.11:c.3468+243del MANE Select	ENSP00000003084.6:n.3468+243del
ENST00000647720.1:c.1118+243del
ENST00000648260.1:c.2250+243del	ENSP00000497957.1:n.2250+243del
ENST00000649406.1:c.3285+243del	ENSP00000497965.1:n.3285+243del
ENST00000649781.1:c.3285+243del	ENSP00000497203.1:n.3285+243del
ENST00000003084.10:c.3468+243del	ENSP00000003084.6:n.3468+243del
ENST00000426809.5:c.3378+243del	ENSP00000389119.1:n.3378+243del
ENST00000468795.1:c.293+243del
NM_000492.3:c.3468+243del , LRG_663t1:c.3468+243del	NP_000483.3:n.3468+243del
XM_011515751.1:c.3558+243del	XP_011514053.1:n.3558+243del
XM_011515752.1:c.3558+243del	XP_011514054.1:n.3558+243del
XM_011515753.1:c.3225+243del	XP_011514055.1:n.3225+243del
XM_011515754.1:c.3225+243del	XP_011514056.1:n.3225+243del
NM_000492.4:c.3468+243del MANE Select	NP_000483.3:n.3468+243del