Canonical Allele Identifier: CA2684616276

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479246-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479246C>A , CM000669.2:g.117479246C>A	GRCh38
NC_000007.13:g.117119300C>A , CM000669.1:g.117119300C>A	GRCh37
NC_000007.12:g.116906536C>A	NCBI36
NG_016465.4:g.18463C>A , LRG_663:g.18463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-523C>A	ENSP00000417012.1:n.-523C>A
ENST00000673785.1:c.-406+13415C>A	ENSP00000501235.1:n.-406+13415C>A
ENST00000546407.1:n.166+3438C>A
XM_011515751.1:c.44C>A	XP_011514053.1:p.Thr15Lys
XM_011515752.1:c.44C>A	XP_011514054.1:p.Thr15Lys
XM_011515754.1:c.-851C>A	XP_011514056.1:n.-851C>A