Canonical Allele Identifier: CA2684616921

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479909-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479914del , CM000669.2:g.117479914del	GRCh38
NC_000007.13:g.117119968del , CM000669.1:g.117119968del	GRCh37
NC_000007.12:g.116907204del	NCBI36
NG_016465.4:g.19131del , LRG_663:g.19131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+220del	ENSP00000417012.1:n.-191+220del
ENST00000673785.1:c.-406+14083del	ENSP00000501235.1:n.-406+14083del
ENST00000446805.1:c.-191+220del	ENSP00000417012.1:n.-191+220del
ENST00000546407.1:n.166+4106del
XM_011515751.1:c.143+569del	XP_011514053.1:n.143+569del
XM_011515752.1:c.143+569del	XP_011514054.1:n.143+569del
XM_011515753.1:c.-191+220del	XP_011514055.1:n.-191+220del
XM_011515754.1:c.-519+220del	XP_011514056.1:n.-519+220del