Canonical Allele Identifier: CA2684616673

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479719-CGCGCGCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479721_117479728del , CM000669.2:g.117479721_117479728del	GRCh38
NC_000007.13:g.117119775_117119782del , CM000669.1:g.117119775_117119782del	GRCh37
NC_000007.12:g.116907011_116907018del	NCBI36
NG_016465.4:g.18938_18945del , LRG_663:g.18938_18945del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+27_-191+34del	ENSP00000417012.1:n.-191+27_-191+34del
ENST00000673785.1:c.-406+13890_-406+13897del	ENSP00000501235.1:n.-406+13890_-406+13897del
ENST00000446805.1:c.-191+27_-191+34del	ENSP00000417012.1:n.-191+27_-191+34del
ENST00000546407.1:n.166+3913_166+3920del
XM_011515751.1:c.143+376_143+383del	XP_011514053.1:n.143+376_143+383del
XM_011515752.1:c.143+376_143+383del	XP_011514054.1:n.143+376_143+383del
XM_011515753.1:c.-191+27_-191+34del	XP_011514055.1:n.-191+27_-191+34del
XM_011515754.1:c.-519+27_-519+34del	XP_011514056.1:n.-519+27_-519+34del