Canonical Allele Identifier: CA2684616414

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479483-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479487del , CM000669.2:g.117479487del	GRCh38
NC_000007.13:g.117119541del , CM000669.1:g.117119541del	GRCh37
NC_000007.12:g.116906777del	NCBI36
NG_016465.4:g.18704del , LRG_663:g.18704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-398del	ENSP00000417012.1:n.-398del
ENST00000673785.1:c.-406+13656del	ENSP00000501235.1:n.-406+13656del
ENST00000446805.1:c.-398del	ENSP00000417012.1:n.-398del
ENST00000546407.1:n.166+3679del
XM_011515751.1:c.143+142del	XP_011514053.1:n.143+142del
XM_011515752.1:c.143+142del	XP_011514054.1:n.143+142del
XM_011515753.1:c.-398del	XP_011514055.1:n.-398del
XM_011515754.1:c.-726del	XP_011514056.1:n.-726del