Canonical Allele Identifier: CA2684616975

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479971-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479971G>A , CM000669.2:g.117479971G>A	GRCh38
NC_000007.13:g.117120025G>A , CM000669.1:g.117120025G>A	GRCh37
NC_000007.12:g.116907261G>A	NCBI36
NG_016465.4:g.19188G>A , LRG_663:g.19188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+277G>A	ENSP00000417012.1:n.-191+277G>A
ENST00000673785.1:c.-406+14140G>A	ENSP00000501235.1:n.-406+14140G>A
ENST00000003084.10:c.-124G>A	ENSP00000003084.6:n.-124G>A
ENST00000446805.1:c.-191+277G>A	ENSP00000417012.1:n.-191+277G>A
ENST00000546407.1:n.166+4163G>A
NM_000492.3:c.-124G>A , LRG_663t1:c.-124G>A	NP_000483.3:n.-124G>A
XM_011515751.1:c.143+626G>A	XP_011514053.1:n.143+626G>A
XM_011515752.1:c.143+626G>A	XP_011514054.1:n.143+626G>A
XM_011515753.1:c.-191+277G>A	XP_011514055.1:n.-191+277G>A
XM_011515754.1:c.-518-177G>A	XP_011514056.1:n.-518-177G>A