Canonical Allele Identifier: CA2684616445

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479506-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479506C>G , CM000669.2:g.117479506C>G	GRCh38
NC_000007.13:g.117119560C>G , CM000669.1:g.117119560C>G	GRCh37
NC_000007.12:g.116906796C>G	NCBI36
NG_016465.4:g.18723C>G , LRG_663:g.18723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-379C>G	ENSP00000417012.1:n.-379C>G
ENST00000673785.1:c.-406+13675C>G	ENSP00000501235.1:n.-406+13675C>G
ENST00000446805.1:c.-379C>G	ENSP00000417012.1:n.-379C>G
ENST00000546407.1:n.166+3698C>G
XM_011515751.1:c.143+161C>G	XP_011514053.1:n.143+161C>G
XM_011515752.1:c.143+161C>G	XP_011514054.1:n.143+161C>G
XM_011515753.1:c.-379C>G	XP_011514055.1:n.-379C>G
XM_011515754.1:c.-707C>G	XP_011514056.1:n.-707C>G