Canonical Allele Identifier: CA1106300331

Gene: CFTR

Linked Data

• dbSNP Id: rs1584764405
• gnomAD v3: 7-117479941-C-G
• gnomAD v4: 7-117479941-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479941C>G , CM000669.2:g.117479941C>G	GRCh38
NC_000007.13:g.117119995C>G , CM000669.1:g.117119995C>G	GRCh37
NC_000007.12:g.116907231C>G	NCBI36
NG_016465.4:g.19158C>G , LRG_663:g.19158C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+247C>G	ENSP00000417012.1:n.-191+247C>G
ENST00000673785.1:c.-406+14110C>G	ENSP00000501235.1:n.-406+14110C>G
ENST00000446805.1:c.-191+247C>G	ENSP00000417012.1:n.-191+247C>G
ENST00000546407.1:n.166+4133C>G
XM_011515751.1:c.143+596C>G	XP_011514053.1:n.143+596C>G
XM_011515752.1:c.143+596C>G	XP_011514054.1:n.143+596C>G
XM_011515753.1:c.-191+247C>G	XP_011514055.1:n.-191+247C>G
XM_011515754.1:c.-518-207C>G	XP_011514056.1:n.-518-207C>G