Canonical Allele Identifier: CA2684616928

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479914-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479917del , CM000669.2:g.117479917del	GRCh38
NC_000007.13:g.117119971del , CM000669.1:g.117119971del	GRCh37
NC_000007.12:g.116907207del	NCBI36
NG_016465.4:g.19134del , LRG_663:g.19134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+223del	ENSP00000417012.1:n.-191+223del
ENST00000673785.1:c.-406+14086del	ENSP00000501235.1:n.-406+14086del
ENST00000446805.1:c.-191+223del	ENSP00000417012.1:n.-191+223del
ENST00000546407.1:n.166+4109del
XM_011515751.1:c.143+572del	XP_011514053.1:n.143+572del
XM_011515752.1:c.143+572del	XP_011514054.1:n.143+572del
XM_011515753.1:c.-191+223del	XP_011514055.1:n.-191+223del
XM_011515754.1:c.-519+223del	XP_011514056.1:n.-519+223del