Canonical Allele Identifier: CA1106300373

Gene: CFTR

Linked Data

• dbSNP Id: rs1584764414
• gnomAD v3: 7-117479946-T-G
• gnomAD v4: 7-117479946-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479946T>G , CM000669.2:g.117479946T>G	GRCh38
NC_000007.13:g.117120000T>G , CM000669.1:g.117120000T>G	GRCh37
NC_000007.12:g.116907236T>G	NCBI36
NG_016465.4:g.19163T>G , LRG_663:g.19163T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+252T>G	ENSP00000417012.1:n.-191+252T>G
ENST00000673785.1:c.-406+14115T>G	ENSP00000501235.1:n.-406+14115T>G
ENST00000446805.1:c.-191+252T>G	ENSP00000417012.1:n.-191+252T>G
ENST00000546407.1:n.166+4138T>G
XM_011515751.1:c.143+601T>G	XP_011514053.1:n.143+601T>G
XM_011515752.1:c.143+601T>G	XP_011514054.1:n.143+601T>G
XM_011515753.1:c.-191+252T>G	XP_011514055.1:n.-191+252T>G
XM_011515754.1:c.-518-202T>G	XP_011514056.1:n.-518-202T>G