Canonical Allele Identifier: CA1106300386

Gene: CFTR

Linked Data

• gnomAD v3: 7-117479947-A-AGGG
• gnomAD v4: 7-117479947-A-AGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479949_117479951dup , CM000669.2:g.117479949_117479951dup	GRCh38
NC_000007.13:g.117120003_117120005dup , CM000669.1:g.117120003_117120005dup	GRCh37
NC_000007.12:g.116907239_116907241dup	NCBI36
NG_016465.4:g.19166_19168dup , LRG_663:g.19166_19168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+255_-191+257dup	ENSP00000417012.1:n.-191+255_-191+257dup
ENST00000673785.1:c.-406+14118_-406+14120dup	ENSP00000501235.1:n.-406+14118_-406+14120dup
ENST00000446805.1:c.-191+255_-191+257dup	ENSP00000417012.1:n.-191+255_-191+257dup
ENST00000546407.1:n.166+4141_166+4143dup
XM_011515751.1:c.143+604_143+606dup	XP_011514053.1:n.143+604_143+606dup
XM_011515752.1:c.143+604_143+606dup	XP_011514054.1:n.143+604_143+606dup
XM_011515753.1:c.-191+255_-191+257dup	XP_011514055.1:n.-191+255_-191+257dup
XM_011515754.1:c.-518-199_-518-197dup	XP_011514056.1:n.-518-199_-518-197dup