Canonical Allele Identifier: CA2684616934

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479928-AAGGGGTGGTGTGCGGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479937_117479954del , CM000669.2:g.117479937_117479954del	GRCh38
NC_000007.13:g.117119991_117120008del , CM000669.1:g.117119991_117120008del	GRCh37
NC_000007.12:g.116907227_116907244del	NCBI36
NG_016465.4:g.19154_19171del , LRG_663:g.19154_19171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+243_-191+260del	ENSP00000417012.1:n.-191+243_-191+260del
ENST00000673785.1:c.-406+14106_-406+14123del	ENSP00000501235.1:n.-406+14106_-406+14123del
ENST00000446805.1:c.-191+243_-191+260del	ENSP00000417012.1:n.-191+243_-191+260del
ENST00000546407.1:n.166+4129_166+4146del
XM_011515751.1:c.143+592_143+609del	XP_011514053.1:n.143+592_143+609del
XM_011515752.1:c.143+592_143+609del	XP_011514054.1:n.143+592_143+609del
XM_011515753.1:c.-191+243_-191+260del	XP_011514055.1:n.-191+243_-191+260del
XM_011515754.1:c.-518-211_-518-194del	XP_011514056.1:n.-518-211_-518-194del