Canonical Allele Identifier: CA2684616438

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479501-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479503del , CM000669.2:g.117479503del	GRCh38
NC_000007.13:g.117119557del , CM000669.1:g.117119557del	GRCh37
NC_000007.12:g.116906793del	NCBI36
NG_016465.4:g.18720del , LRG_663:g.18720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-382del	ENSP00000417012.1:n.-382del
ENST00000673785.1:c.-406+13672del	ENSP00000501235.1:n.-406+13672del
ENST00000446805.1:c.-382del	ENSP00000417012.1:n.-382del
ENST00000546407.1:n.166+3695del
XM_011515751.1:c.143+158del	XP_011514053.1:n.143+158del
XM_011515752.1:c.143+158del	XP_011514054.1:n.143+158del
XM_011515753.1:c.-382del	XP_011514055.1:n.-382del
XM_011515754.1:c.-710del	XP_011514056.1:n.-710del