Canonical Allele Identifier: CA164948591

Gene: CFTR

Linked Data

• dbSNP Id: rs892779831
• gnomAD v2: 7-117119881-T-G
• gnomAD v3: 7-117479827-T-G
• gnomAD v4: 7-117479827-T-G
• MyVariant Identifiers: chr7:g.117119881T>G (hg19) ; chr7:g.117479827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479827T>G , CM000669.2:g.117479827T>G	GRCh38
NC_000007.13:g.117119881T>G , CM000669.1:g.117119881T>G	GRCh37
NC_000007.12:g.116907117T>G	NCBI36
NG_016465.4:g.19044T>G , LRG_663:g.19044T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+133T>G	ENSP00000417012.1:n.-191+133T>G
ENST00000673785.1:c.-406+13996T>G	ENSP00000501235.1:n.-406+13996T>G
ENST00000446805.1:c.-191+133T>G	ENSP00000417012.1:n.-191+133T>G
ENST00000546407.1:n.166+4019T>G
XM_011515751.1:c.143+482T>G	XP_011514053.1:n.143+482T>G
XM_011515752.1:c.143+482T>G	XP_011514054.1:n.143+482T>G
XM_011515753.1:c.-191+133T>G	XP_011514055.1:n.-191+133T>G
XM_011515754.1:c.-519+133T>G	XP_011514056.1:n.-519+133T>G