Canonical Allele Identifier: CA2684616679

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479723-CGCGAGGGAGGGAGGCTGGGAGTCAGAATCGGGAAAGGGAGGTGCGGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479733_117479782del , CM000669.2:g.117479733_117479782del	GRCh38
NC_000007.13:g.117119787_117119836del , CM000669.1:g.117119787_117119836del	GRCh37
NC_000007.12:g.116907023_116907072del	NCBI36
NG_016465.4:g.18950_18999del , LRG_663:g.18950_18999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+39_-191+88del	ENSP00000417012.1:n.-191+39_-191+88del
ENST00000673785.1:c.-406+13902_-406+13951del	ENSP00000501235.1:n.-406+13902_-406+13951del
ENST00000446805.1:c.-191+39_-191+88del	ENSP00000417012.1:n.-191+39_-191+88del
ENST00000546407.1:n.166+3925_166+3974del
XM_011515751.1:c.143+388_143+437del	XP_011514053.1:n.143+388_143+437del
XM_011515752.1:c.143+388_143+437del	XP_011514054.1:n.143+388_143+437del
XM_011515753.1:c.-191+39_-191+88del	XP_011514055.1:n.-191+39_-191+88del
XM_011515754.1:c.-519+39_-519+88del	XP_011514056.1:n.-519+39_-519+88del