Canonical Allele Identifier: CA2684616528

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479583-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479587dup , CM000669.2:g.117479587dup	GRCh38
NC_000007.13:g.117119641dup , CM000669.1:g.117119641dup	GRCh37
NC_000007.12:g.116906877dup	NCBI36
NG_016465.4:g.18804dup , LRG_663:g.18804dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-298dup	ENSP00000417012.1:n.-298dup
ENST00000673785.1:c.-406+13756dup	ENSP00000501235.1:n.-406+13756dup
ENST00000446805.1:c.-298dup	ENSP00000417012.1:n.-298dup
ENST00000546407.1:n.166+3779dup
XM_011515751.1:c.143+242dup	XP_011514053.1:n.143+242dup
XM_011515752.1:c.143+242dup	XP_011514054.1:n.143+242dup
XM_011515753.1:c.-298dup	XP_011514055.1:n.-298dup
XM_011515754.1:c.-626dup	XP_011514056.1:n.-626dup