Canonical Allele Identifier: CA254107

Gene: CFTR

Linked Data

• ClinVar Variation Id: 40190
• ClinVar RCV Id: RCV000056350 ; RCV000211129 ; RCV000508411 ; RCV000763573 ; RCV001004466 ; RCV001826538 ; RCV003473249
• dbSNP Id: rs121909005
• gnomAD v2: 7-117227855-T-G
• gnomAD v3: 7-117587801-T-G
• gnomAD v4: 7-117587801-T-G
• MyVariant Identifiers: chr7:g.117227855T>G (hg19) ; chr7:g.117587801T>G (hg38)
• PubMed: PMID:1712898 ; PMID:2236053 ; PMID:11005149 ; PMID:11523757 ; PMID:18456578 ; PMID:22293084 ; PMID:22975760 ; PMID:22992668 ; PMID:23974870 ; PMID:24440181 ; PMID:25489051

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587801T>G , CM000669.2:g.117587801T>G	GRCh38
NC_000007.13:g.117227855T>G , CM000669.1:g.117227855T>G	GRCh37
NC_000007.12:g.117015091T>G	NCBI36
NG_016465.4:g.127018T>G , LRG_663:g.127018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1647T>G	ENSP00000497673.2:p.Ser549Arg
ENST00000647978.2:c.*1361T>G	ENSP00000497658.1:n.*1361T>G
ENST00000649781.2:c.1464T>G	ENSP00000497203.1:p.Ser488Arg
ENST00000685018.2:c.1647T>G	ENSP00000510194.2:p.Ser549Arg
ENST00000687278.2:c.1647T>G	ENSP00000509593.2:p.Ser549Arg
ENST00000699585.1:c.1647T>G	ENSP00000514456.1:p.Ser549Arg
ENST00000699598.1:c.1647T>G	ENSP00000514467.1:p.Ser549Arg
ENST00000699599.1:c.1647T>G	ENSP00000514468.1:p.Ser549Arg
ENST00000699600.1:c.1647T>G	ENSP00000514469.1:p.Ser549Arg
ENST00000699601.1:c.1647T>G	ENSP00000514470.1:p.Ser549Arg
ENST00000699602.1:c.1647T>G	ENSP00000514471.1:p.Ser549Arg
ENST00000699604.1:c.*1471T>G	ENSP00000514472.1:n.*1471T>G
ENST00000699605.1:c.1221T>G	ENSP00000514473.1:p.Ser407Arg
ENST00000003084.11:c.1647T>G MANE Select	ENSP00000003084.6:p.Ser549Arg
ENST00000647978.1:c.*1361T>G	ENSP00000497658.1:n.*1361T>G
ENST00000648260.1:c.1402-15025T>G	ENSP00000497957.1:n.1402-15025T>G
ENST00000649406.1:c.1464T>G	ENSP00000497965.1:p.Ser488Arg
ENST00000649781.1:c.1464T>G	ENSP00000497203.1:p.Ser488Arg
ENST00000003084.10:c.1647T>G	ENSP00000003084.6:p.Ser549Arg
ENST00000426809.5:c.1557T>G	ENSP00000389119.1:p.Ser519Arg
NM_000492.3:c.1647T>G , LRG_663t1:c.1647T>G	NP_000483.3:p.Ser549Arg
XM_011515751.1:c.1737T>G	XP_011514053.1:p.Ser579Arg
XM_011515752.1:c.1737T>G	XP_011514054.1:p.Ser579Arg
XM_011515753.1:c.1404T>G	XP_011514055.1:p.Ser468Arg
XM_011515754.1:c.1404T>G	XP_011514056.1:p.Ser468Arg
NM_000492.4:c.1647T>G MANE Select	NP_000483.3:p.Ser549Arg