Canonical Allele Identifier: CA164948424

Gene: CFTR

Linked Data

• dbSNP Id: rs967054399
• gnomAD v3: 7-117479486-AAGG-A
• gnomAD v4: 7-117479486-AAGG-A
• MyVariant Identifiers: chr7:g.117119541_117119543del (hg19) ; chr7:g.117479487_117479489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479500_117479502del , CM000669.2:g.117479500_117479502del	GRCh38
NC_000007.13:g.117119554_117119556del , CM000669.1:g.117119554_117119556del	GRCh37
NC_000007.12:g.116906790_116906792del	NCBI36
NG_016465.4:g.18717_18719del , LRG_663:g.18717_18719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-385_-383del	ENSP00000417012.1:n.-385_-383del
ENST00000673785.1:c.-406+13669_-406+13671del	ENSP00000501235.1:n.-406+13669_-406+13671del
ENST00000446805.1:c.-385_-383del	ENSP00000417012.1:n.-385_-383del
ENST00000546407.1:n.166+3692_166+3694del
XM_011515751.1:c.143+155_143+157del	XP_011514053.1:n.143+155_143+157del
XM_011515752.1:c.143+155_143+157del	XP_011514054.1:n.143+155_143+157del
XM_011515753.1:c.-385_-383del	XP_011514055.1:n.-385_-383del
XM_011515754.1:c.-713_-711del	XP_011514056.1:n.-713_-711del