Canonical Allele Identifier: CA2684616625

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479691-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479691G>T , CM000669.2:g.117479691G>T	GRCh38
NC_000007.13:g.117119745G>T , CM000669.1:g.117119745G>T	GRCh37
NC_000007.12:g.116906981G>T	NCBI36
NG_016465.4:g.18908G>T , LRG_663:g.18908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-194G>T	ENSP00000417012.1:n.-194G>T
ENST00000673785.1:c.-406+13860G>T	ENSP00000501235.1:n.-406+13860G>T
ENST00000446805.1:c.-194G>T	ENSP00000417012.1:n.-194G>T
ENST00000546407.1:n.166+3883G>T
XM_011515751.1:c.143+346G>T	XP_011514053.1:n.143+346G>T
XM_011515752.1:c.143+346G>T	XP_011514054.1:n.143+346G>T
XM_011515753.1:c.-194G>T	XP_011514055.1:n.-194G>T
XM_011515754.1:c.-522G>T	XP_011514056.1:n.-522G>T