Canonical Allele Identifier: CA2684616739

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479767-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479771del , CM000669.2:g.117479771del	GRCh38
NC_000007.13:g.117119825del , CM000669.1:g.117119825del	GRCh37
NC_000007.12:g.116907061del	NCBI36
NG_016465.4:g.18988del , LRG_663:g.18988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+77del	ENSP00000417012.1:n.-191+77del
ENST00000673785.1:c.-406+13940del	ENSP00000501235.1:n.-406+13940del
ENST00000446805.1:c.-191+77del	ENSP00000417012.1:n.-191+77del
ENST00000546407.1:n.166+3963del
XM_011515751.1:c.143+426del	XP_011514053.1:n.143+426del
XM_011515752.1:c.143+426del	XP_011514054.1:n.143+426del
XM_011515753.1:c.-191+77del	XP_011514055.1:n.-191+77del
XM_011515754.1:c.-519+77del	XP_011514056.1:n.-519+77del