Canonical Allele Identifier: CA2684616689

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479731-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479734del , CM000669.2:g.117479734del	GRCh38
NC_000007.13:g.117119788del , CM000669.1:g.117119788del	GRCh37
NC_000007.12:g.116907024del	NCBI36
NG_016465.4:g.18951del , LRG_663:g.18951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+40del	ENSP00000417012.1:n.-191+40del
ENST00000673785.1:c.-406+13903del	ENSP00000501235.1:n.-406+13903del
ENST00000446805.1:c.-191+40del	ENSP00000417012.1:n.-191+40del
ENST00000546407.1:n.166+3926del
XM_011515751.1:c.143+389del	XP_011514053.1:n.143+389del
XM_011515752.1:c.143+389del	XP_011514054.1:n.143+389del
XM_011515753.1:c.-191+40del	XP_011514055.1:n.-191+40del
XM_011515754.1:c.-519+40del	XP_011514056.1:n.-519+40del