Canonical Allele Identifier: CA1106300277

Gene: CFTR

Linked Data

• dbSNP Id: rs1797971436
• gnomAD v3: 7-117479923-A-G
• gnomAD v4: 7-117479923-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479923A>G , CM000669.2:g.117479923A>G	GRCh38
NC_000007.13:g.117119977A>G , CM000669.1:g.117119977A>G	GRCh37
NC_000007.12:g.116907213A>G	NCBI36
NG_016465.4:g.19140A>G , LRG_663:g.19140A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+229A>G	ENSP00000417012.1:n.-191+229A>G
ENST00000673785.1:c.-406+14092A>G	ENSP00000501235.1:n.-406+14092A>G
ENST00000446805.1:c.-191+229A>G	ENSP00000417012.1:n.-191+229A>G
ENST00000546407.1:n.166+4115A>G
XM_011515751.1:c.143+578A>G	XP_011514053.1:n.143+578A>G
XM_011515752.1:c.143+578A>G	XP_011514054.1:n.143+578A>G
XM_011515753.1:c.-191+229A>G	XP_011514055.1:n.-191+229A>G
XM_011515754.1:c.-518-225A>G	XP_011514056.1:n.-518-225A>G