Canonical Allele Identifier: CA164948762

Gene: CFTR

Linked Data

• dbSNP Id: rs1043352719
• gnomAD v4: 7-117479997-A-T
• MyVariant Identifiers: chr7:g.117120051A>T (hg19) ; chr7:g.117479997A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479997A>T , CM000669.2:g.117479997A>T	GRCh38
NC_000007.13:g.117120051A>T , CM000669.1:g.117120051A>T	GRCh37
NC_000007.12:g.116907287A>T	NCBI36
NG_016465.4:g.19214A>T , LRG_663:g.19214A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.-98A>T	ENSP00000497673.2:n.-98A>T
ENST00000685018.2:c.-98A>T	ENSP00000510194.2:n.-98A>T
ENST00000687278.2:c.-98A>T	ENSP00000509593.2:n.-98A>T
ENST00000699585.1:c.-98A>T	ENSP00000514456.1:n.-98A>T
ENST00000699596.1:c.-98A>T	ENSP00000514465.1:n.-98A>T
ENST00000699597.1:c.-98A>T	ENSP00000514466.1:n.-98A>T
ENST00000699598.1:c.-98A>T	ENSP00000514467.1:n.-98A>T
ENST00000699599.1:c.-98A>T	ENSP00000514468.1:n.-98A>T
ENST00000699600.1:c.-98A>T	ENSP00000514469.1:n.-98A>T
ENST00000699601.1:c.-98A>T	ENSP00000514470.1:n.-98A>T
ENST00000699602.1:c.-98A>T	ENSP00000514471.1:n.-98A>T
ENST00000446805.2:c.-191+303A>T	ENSP00000417012.1:n.-191+303A>T
ENST00000673785.1:c.-406+14166A>T	ENSP00000501235.1:n.-406+14166A>T
ENST00000003084.10:c.-98A>T	ENSP00000003084.6:n.-98A>T
ENST00000446805.1:c.-191+303A>T	ENSP00000417012.1:n.-191+303A>T
ENST00000546407.1:n.166+4189A>T
NM_000492.3:c.-98A>T , LRG_663t1:c.-98A>T	NP_000483.3:n.-98A>T
XM_011515751.1:c.143+652A>T	XP_011514053.1:n.143+652A>T
XM_011515752.1:c.143+652A>T	XP_011514054.1:n.143+652A>T
XM_011515753.1:c.-191+303A>T	XP_011514055.1:n.-191+303A>T
XM_011515754.1:c.-518-151A>T	XP_011514056.1:n.-518-151A>T