Canonical Allele Identifier: CA2684616820

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479821-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479826dup , CM000669.2:g.117479826dup	GRCh38
NC_000007.13:g.117119880dup , CM000669.1:g.117119880dup	GRCh37
NC_000007.12:g.116907116dup	NCBI36
NG_016465.4:g.19043dup , LRG_663:g.19043dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+132dup	ENSP00000417012.1:n.-191+132dup
ENST00000673785.1:c.-406+13995dup	ENSP00000501235.1:n.-406+13995dup
ENST00000446805.1:c.-191+132dup	ENSP00000417012.1:n.-191+132dup
ENST00000546407.1:n.166+4018dup
XM_011515751.1:c.143+481dup	XP_011514053.1:n.143+481dup
XM_011515752.1:c.143+481dup	XP_011514054.1:n.143+481dup
XM_011515753.1:c.-191+132dup	XP_011514055.1:n.-191+132dup
XM_011515754.1:c.-519+132dup	XP_011514056.1:n.-519+132dup