Canonical Allele Identifier: CA327529

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53971
• ClinVar RCV Id: RCV000047162 ; RCV000507054 ; RCV001009491 ; RCV001001769 ; RCV002255273 ; RCV003474605
• dbSNP Id: rs377729736
• ExAC: 7:117171171 A / G
• gnomAD v2: 7-117171171-A-G
• gnomAD v3: 7-117531117-A-G
• gnomAD v4: 7-117531117-A-G
• MyVariant Identifiers: chr7:g.117171171A>G (hg19) ; chr7:g.117531117A>G (hg38)
• PubMed: PMID:10980579 ; PMID:11810271 ; PMID:12752573 ; PMID:17572159 ; PMID:17850636 ; PMID:18456578 ; PMID:19893581 ; PMID:20021716 ; PMID:20522854 ; PMID:20657600 ; PMID:20932301 ; PMID:21796730 ; PMID:22020151 ; PMID:22439019 ; PMID:23891399 ; PMID:25304080 ; PMID:25308578

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531117A>G , CM000669.2:g.117531117A>G	GRCh38
NC_000007.13:g.117171171A>G , CM000669.1:g.117171171A>G	GRCh37
NC_000007.12:g.116958407A>G	NCBI36
NG_016465.4:g.70334A>G , LRG_663:g.70334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.489+3A>G	ENSP00000497673.2:n.489+3A>G
ENST00000647978.2:c.*386+3A>G	ENSP00000497658.1:n.*386+3A>G
ENST00000649781.2:c.489+3A>G	ENSP00000497203.1:n.489+3A>G
ENST00000685018.2:c.489+3A>G	ENSP00000510194.2:n.489+3A>G
ENST00000687278.2:c.489+3A>G	ENSP00000509593.2:n.489+3A>G
ENST00000699585.1:c.489+3A>G	ENSP00000514456.1:n.489+3A>G
ENST00000699596.1:c.489+3A>G	ENSP00000514465.1:n.489+3A>G
ENST00000699597.1:c.489+3A>G	ENSP00000514466.1:n.489+3A>G
ENST00000699598.1:c.489+3A>G	ENSP00000514467.1:n.489+3A>G
ENST00000699599.1:c.489+3A>G	ENSP00000514468.1:n.489+3A>G
ENST00000699600.1:c.489+3A>G	ENSP00000514469.1:n.489+3A>G
ENST00000699601.1:c.489+3A>G	ENSP00000514470.1:n.489+3A>G
ENST00000699602.1:c.489+3A>G	ENSP00000514471.1:n.489+3A>G
ENST00000699604.1:c.*313+3A>G	ENSP00000514472.1:n.*313+3A>G
ENST00000699605.1:c.246+3A>G	ENSP00000514473.1:n.246+3A>G
ENST00000003084.11:c.489+3A>G MANE Select	ENSP00000003084.6:n.489+3A>G
ENST00000647978.1:c.*386+3A>G	ENSP00000497658.1:n.*386+3A>G
ENST00000648260.1:c.489+3A>G	ENSP00000497957.1:n.489+3A>G
ENST00000649406.1:c.489+3A>G	ENSP00000497965.1:n.489+3A>G
ENST00000649781.1:c.489+3A>G	ENSP00000497203.1:n.489+3A>G
ENST00000673785.1:c.246+3A>G	ENSP00000501235.1:n.246+3A>G
ENST00000003084.10:c.489+3A>G	ENSP00000003084.6:n.489+3A>G
ENST00000426809.5:c.489+3A>G	ENSP00000389119.1:n.489+3A>G
NM_000492.3:c.489+3A>G , LRG_663t1:c.489+3A>G	NP_000483.3:n.489+3A>G
XM_011515751.1:c.579+3A>G	XP_011514053.1:n.579+3A>G
XM_011515752.1:c.579+3A>G	XP_011514054.1:n.579+3A>G
XM_011515753.1:c.246+3A>G	XP_011514055.1:n.246+3A>G
XM_011515754.1:c.246+3A>G	XP_011514056.1:n.246+3A>G
NM_000492.4:c.489+3A>G MANE Select	NP_000483.3:n.489+3A>G