Canonical Allele Identifier: CA325521

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7116
• ClinVar RCV Id: RCV000007536 ; RCV000211264 ; RCV000727629 ; RCV001004465 ; RCV001831522 ; RCV002247260 ; RCV002496296 ; RCV003473007
• dbSNP Id: rs121908755
• ExAC: 7:117227854 G / A
• gnomAD v2: 7-117227854-G-A
• gnomAD v3: 7-117587800-G-A
• gnomAD v4: 7-117587800-G-A
• MyVariant Identifiers: chr7:g.117227854G>A (hg19) ; chr7:g.117587800G>A (hg38)
• PubMed: PMID:1283148 ; PMID:1695717 ; PMID:2236053 ; PMID:7506096 ; PMID:7539080 ; PMID:7550243 ; PMID:7573058 ; PMID:10798368 ; PMID:15371903 ; PMID:22293084 ; PMID:22992668 ; PMID:23027855 ; PMID:23974870 ; PMID:24081349 ; PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587800G>A , CM000669.2:g.117587800G>A	GRCh38
NC_000007.13:g.117227854G>A , CM000669.1:g.117227854G>A	GRCh37
NC_000007.12:g.117015090G>A	NCBI36
NG_016465.4:g.127017G>A , LRG_663:g.127017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1646G>A	ENSP00000497673.2:p.Ser549Asn
ENST00000647978.2:c.*1360G>A	ENSP00000497658.1:n.*1360G>A
ENST00000649781.2:c.1463G>A	ENSP00000497203.1:p.Ser488Asn
ENST00000685018.2:c.1646G>A	ENSP00000510194.2:p.Ser549Asn
ENST00000687278.2:c.1646G>A	ENSP00000509593.2:p.Ser549Asn
ENST00000699585.1:c.1646G>A	ENSP00000514456.1:p.Ser549Asn
ENST00000699598.1:c.1646G>A	ENSP00000514467.1:p.Ser549Asn
ENST00000699599.1:c.1646G>A	ENSP00000514468.1:p.Ser549Asn
ENST00000699600.1:c.1646G>A	ENSP00000514469.1:p.Ser549Asn
ENST00000699601.1:c.1646G>A	ENSP00000514470.1:p.Ser549Asn
ENST00000699602.1:c.1646G>A	ENSP00000514471.1:p.Ser549Asn
ENST00000699604.1:c.*1470G>A	ENSP00000514472.1:n.*1470G>A
ENST00000699605.1:c.1220G>A	ENSP00000514473.1:p.Ser407Asn
ENST00000003084.11:c.1646G>A MANE Select	ENSP00000003084.6:p.Ser549Asn
ENST00000647978.1:c.*1360G>A	ENSP00000497658.1:n.*1360G>A
ENST00000648260.1:c.1402-15026G>A	ENSP00000497957.1:n.1402-15026G>A
ENST00000649406.1:c.1463G>A	ENSP00000497965.1:p.Ser488Asn
ENST00000649781.1:c.1463G>A	ENSP00000497203.1:p.Ser488Asn
ENST00000003084.10:c.1646G>A	ENSP00000003084.6:p.Ser549Asn
ENST00000426809.5:c.1556G>A	ENSP00000389119.1:p.Ser519Asn
NM_000492.3:c.1646G>A , LRG_663t1:c.1646G>A	NP_000483.3:p.Ser549Asn
XM_011515751.1:c.1736G>A	XP_011514053.1:p.Ser579Asn
XM_011515752.1:c.1736G>A	XP_011514054.1:p.Ser579Asn
XM_011515753.1:c.1403G>A	XP_011514055.1:p.Ser468Asn
XM_011515754.1:c.1403G>A	XP_011514056.1:p.Ser468Asn
NM_000492.4:c.1646G>A MANE Select	NP_000483.3:p.Ser549Asn