Canonical Allele Identifier: CA2684616439

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479503-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479503A>G , CM000669.2:g.117479503A>G	GRCh38
NC_000007.13:g.117119557A>G , CM000669.1:g.117119557A>G	GRCh37
NC_000007.12:g.116906793A>G	NCBI36
NG_016465.4:g.18720A>G , LRG_663:g.18720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-382A>G	ENSP00000417012.1:n.-382A>G
ENST00000673785.1:c.-406+13672A>G	ENSP00000501235.1:n.-406+13672A>G
ENST00000446805.1:c.-382A>G	ENSP00000417012.1:n.-382A>G
ENST00000546407.1:n.166+3695A>G
XM_011515751.1:c.143+158A>G	XP_011514053.1:n.143+158A>G
XM_011515752.1:c.143+158A>G	XP_011514054.1:n.143+158A>G
XM_011515753.1:c.-382A>G	XP_011514055.1:n.-382A>G
XM_011515754.1:c.-710A>G	XP_011514056.1:n.-710A>G