Canonical Allele Identifier: CA832112546

Gene: CFTR

Linked Data

• dbSNP Id: rs1338542039
• gnomAD v3: 7-117479581-TC-T
• gnomAD v4: 7-117479581-TC-T
• MyVariant Identifiers: chr7:g.117119636del (hg19) ; chr7:g.117479582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479583del , CM000669.2:g.117479583del	GRCh38
NC_000007.13:g.117119637del , CM000669.1:g.117119637del	GRCh37
NC_000007.12:g.116906873del	NCBI36
NG_016465.4:g.18800del , LRG_663:g.18800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-302del	ENSP00000417012.1:n.-302del
ENST00000673785.1:c.-406+13752del	ENSP00000501235.1:n.-406+13752del
ENST00000446805.1:c.-302del	ENSP00000417012.1:n.-302del
ENST00000546407.1:n.166+3775del
XM_011515751.1:c.143+238del	XP_011514053.1:n.143+238del
XM_011515752.1:c.143+238del	XP_011514054.1:n.143+238del
XM_011515753.1:c.-302del	XP_011514055.1:n.-302del
XM_011515754.1:c.-630del	XP_011514056.1:n.-630del