Canonical Allele Identifier: CA832112384

Gene: CFTR

Linked Data

• dbSNP Id: rs1449314367
• gnomAD v3: 7-117479216-T-A
• gnomAD v4: 7-117479216-T-A
• MyVariant Identifiers: chr7:g.117119270T>A (hg19) ; chr7:g.117479216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479216T>A , CM000669.2:g.117479216T>A	GRCh38
NC_000007.13:g.117119270T>A , CM000669.1:g.117119270T>A	GRCh37
NC_000007.12:g.116906506T>A	NCBI36
NG_016465.4:g.18433T>A , LRG_663:g.18433T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-28T>A	ENSP00000417012.1:n.-525-28T>A
ENST00000673785.1:c.-406+13385T>A	ENSP00000501235.1:n.-406+13385T>A
ENST00000546407.1:n.166+3408T>A
XM_011515751.1:c.42-28T>A	XP_011514053.1:n.42-28T>A
XM_011515752.1:c.42-28T>A	XP_011514054.1:n.42-28T>A
XM_011515754.1:c.-881T>A	XP_011514056.1:n.-881T>A