Canonical Allele Identifier: CA2684616431

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479497-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479497G>T , CM000669.2:g.117479497G>T	GRCh38
NC_000007.13:g.117119551G>T , CM000669.1:g.117119551G>T	GRCh37
NC_000007.12:g.116906787G>T	NCBI36
NG_016465.4:g.18714G>T , LRG_663:g.18714G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-388G>T	ENSP00000417012.1:n.-388G>T
ENST00000673785.1:c.-406+13666G>T	ENSP00000501235.1:n.-406+13666G>T
ENST00000446805.1:c.-388G>T	ENSP00000417012.1:n.-388G>T
ENST00000546407.1:n.166+3689G>T
XM_011515751.1:c.143+152G>T	XP_011514053.1:n.143+152G>T
XM_011515752.1:c.143+152G>T	XP_011514054.1:n.143+152G>T
XM_011515753.1:c.-388G>T	XP_011514055.1:n.-388G>T
XM_011515754.1:c.-716G>T	XP_011514056.1:n.-716G>T