Canonical Allele Identifier: CA164948421

Gene: CFTR

Linked Data

• dbSNP Id: rs967054399
• gnomAD v2: 7-117119540-A-AAGG
• gnomAD v3: 7-117479486-A-AAGG
• gnomAD v4: 7-117479486-A-AAGG
• MyVariant Identifiers: chr7:g.117119540_117119541insAGG (hg19) ; chr7:g.117479486_117479487insAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479500_117479502dup , CM000669.2:g.117479500_117479502dup	GRCh38
NC_000007.13:g.117119554_117119556dup , CM000669.1:g.117119554_117119556dup	GRCh37
NC_000007.12:g.116906790_116906792dup	NCBI36
NG_016465.4:g.18717_18719dup , LRG_663:g.18717_18719dup

Transcript Alleles

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