Canonical Allele Identifier: CA832112137

Gene: CFTR

Linked Data

• dbSNP Id: rs1260328978
• gnomAD v3: 7-117478797-TCAAACA-T
• gnomAD v4: 7-117478797-TCAAACA-T
• MyVariant Identifiers: chr7:g.117118852_117118857del (hg19) ; chr7:g.117478798_117478803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478801_117478806del , CM000669.2:g.117478801_117478806del	GRCh38
NC_000007.13:g.117118855_117118860del , CM000669.1:g.117118855_117118860del	GRCh37
NC_000007.12:g.116906091_116906096del	NCBI36
NG_016465.4:g.18018_18023del , LRG_663:g.18018_18023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+379_-526+384del	ENSP00000417012.1:n.-526+379_-526+384del
ENST00000673785.1:c.-406+12970_-406+12975del	ENSP00000501235.1:n.-406+12970_-406+12975del
ENST00000546407.1:n.166+2993_166+2998del
XM_011515751.1:c.41+379_41+384del	XP_011514053.1:n.41+379_41+384del
XM_011515752.1:c.41+379_41+384del	XP_011514054.1:n.41+379_41+384del
XM_011515754.1:c.-1296_-1291del	XP_011514056.1:n.-1296_-1291del