Canonical Allele Identifier: CA260218

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35844
• ClinVar RCV Id: RCV000029499 ; RCV000244736 ; RCV000759758 ; RCV001158764 ; RCV002257362
• dbSNP Id: rs139379077
• ExAC: 7:117242865 C / G
• gnomAD v2: 7-117242865-C-G
• gnomAD v3: 7-117602811-C-G
• gnomAD v4: 7-117602811-C-G
• MyVariant Identifiers: chr7:g.117242865C>G (hg19) ; chr7:g.117602811C>G (hg38)
• PubMed: PMID:9272157 ; PMID:10875853 ; PMID:24272871 ; PMID:25900089 ; PMID:26436105 ; PMID:26500004

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602811C>G , CM000669.2:g.117602811C>G	GRCh38
NC_000007.13:g.117242865C>G , CM000669.1:g.117242865C>G	GRCh37
NC_000007.12:g.117030101C>G	NCBI36
NG_016465.4:g.142028C>G , LRG_663:g.142028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2620-15C>G	ENSP00000497673.2:n.2620-15C>G
ENST00000647978.2:c.*2334-15C>G	ENSP00000497658.1:n.*2334-15C>G
ENST00000649781.2:c.2437-15C>G	ENSP00000497203.1:n.2437-15C>G
ENST00000685018.2:c.2620-15C>G	ENSP00000510194.2:n.2620-15C>G
ENST00000687278.2:c.2620-15C>G	ENSP00000509593.2:n.2620-15C>G
ENST00000699585.1:c.2620-15C>G	ENSP00000514456.1:n.2620-15C>G
ENST00000699598.1:c.2620-15C>G	ENSP00000514467.1:n.2620-15C>G
ENST00000699599.1:c.2620-15C>G	ENSP00000514468.1:n.2620-15C>G
ENST00000699600.1:c.2620-15C>G	ENSP00000514469.1:n.2620-15C>G
ENST00000699601.1:c.*920-15C>G	ENSP00000514470.1:n.*920-15C>G
ENST00000699602.1:c.2620-15C>G	ENSP00000514471.1:n.2620-15C>G
ENST00000699604.1:c.*2444-15C>G	ENSP00000514472.1:n.*2444-15C>G
ENST00000699605.1:c.2194-15C>G	ENSP00000514473.1:n.2194-15C>G
ENST00000687278.1:c.211-15C>G	ENSP00000509593.1:n.211-15C>G
ENST00000003084.11:c.2620-15C>G MANE Select	ENSP00000003084.6:n.2620-15C>G
ENST00000647720.1:c.270-15C>G
ENST00000648260.1:c.1402-15C>G	ENSP00000497957.1:n.1402-15C>G
ENST00000649406.1:c.2437-15C>G	ENSP00000497965.1:n.2437-15C>G
ENST00000649781.1:c.2437-15C>G	ENSP00000497203.1:n.2437-15C>G
ENST00000003084.10:c.2620-15C>G	ENSP00000003084.6:n.2620-15C>G
ENST00000426809.5:c.2530-15C>G	ENSP00000389119.1:n.2530-15C>G
NM_000492.3:c.2620-15C>G , LRG_663t1:c.2620-15C>G	NP_000483.3:n.2620-15C>G
XM_011515751.1:c.2710-15C>G	XP_011514053.1:n.2710-15C>G
XM_011515752.1:c.2710-15C>G	XP_011514054.1:n.2710-15C>G
XM_011515753.1:c.2377-15C>G	XP_011514055.1:n.2377-15C>G
XM_011515754.1:c.2377-15C>G	XP_011514056.1:n.2377-15C>G
NM_000492.4:c.2620-15C>G MANE Select	NP_000483.3:n.2620-15C>G