Canonical Allele Identifier: CA2684616347

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479390-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479390T>C , CM000669.2:g.117479390T>C	GRCh38
NC_000007.13:g.117119444T>C , CM000669.1:g.117119444T>C	GRCh37
NC_000007.12:g.116906680T>C	NCBI36
NG_016465.4:g.18607T>C , LRG_663:g.18607T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-424+45T>C	ENSP00000417012.1:n.-424+45T>C
ENST00000673785.1:c.-406+13559T>C	ENSP00000501235.1:n.-406+13559T>C
ENST00000446805.1:c.-424+45T>C	ENSP00000417012.1:n.-424+45T>C
ENST00000546407.1:n.166+3582T>C
XM_011515751.1:c.143+45T>C	XP_011514053.1:n.143+45T>C
XM_011515752.1:c.143+45T>C	XP_011514054.1:n.143+45T>C
XM_011515753.1:c.-424+45T>C	XP_011514055.1:n.-424+45T>C
XM_011515754.1:c.-752+45T>C	XP_011514056.1:n.-752+45T>C