Canonical Allele Identifier: CA2684616427

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479493-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479495del , CM000669.2:g.117479495del	GRCh38
NC_000007.13:g.117119549del , CM000669.1:g.117119549del	GRCh37
NC_000007.12:g.116906785del	NCBI36
NG_016465.4:g.18712del , LRG_663:g.18712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-390del	ENSP00000417012.1:n.-390del
ENST00000673785.1:c.-406+13664del	ENSP00000501235.1:n.-406+13664del
ENST00000446805.1:c.-390del	ENSP00000417012.1:n.-390del
ENST00000546407.1:n.166+3687del
XM_011515751.1:c.143+150del	XP_011514053.1:n.143+150del
XM_011515752.1:c.143+150del	XP_011514054.1:n.143+150del
XM_011515753.1:c.-390del	XP_011514055.1:n.-390del
XM_011515754.1:c.-718del	XP_011514056.1:n.-718del