Canonical Allele Identifier: CA260217

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35842
• ClinVar RCV Id: RCV000197986 ; RCV000313144 ; RCV000515401 ; RCV000725433 ; RCV001009483 ; RCV002257361
• dbSNP Id: rs1800103
• ExAC: 7:117232642 A / G
• gnomAD v2: 7-117232642-A-G
• gnomAD v3: 7-117592588-A-G
• gnomAD v4: 7-117592588-A-G
• MyVariant Identifiers: chr7:g.117232642A>G (hg19) ; chr7:g.117592588A>G (hg38)
• PubMed: PMID:9736778 ; PMID:14998948 ; PMID:17003641 ; PMID:17489851 ; PMID:18716917 ; PMID:19202204 ; PMID:19812525 ; PMID:20460946 ; PMID:20722470 ; PMID:20977904 ; PMID:23951356 ; PMID:24631642 ; PMID:25033378 ; PMID:25651269 ; PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592588A>G , CM000669.2:g.117592588A>G	GRCh38
NC_000007.13:g.117232642A>G , CM000669.1:g.117232642A>G	GRCh37
NC_000007.12:g.117019878A>G	NCBI36
NG_016465.4:g.131805A>G , LRG_663:g.131805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2421A>G	ENSP00000497673.2:p.Ile807Met
ENST00000647978.2:c.*2135A>G	ENSP00000497658.1:n.*2135A>G
ENST00000649781.2:c.2238A>G	ENSP00000497203.1:p.Ile746Met
ENST00000685018.2:c.2421A>G	ENSP00000510194.2:p.Ile807Met
ENST00000687278.2:c.2421A>G	ENSP00000509593.2:p.Ile807Met
ENST00000699585.1:c.2421A>G	ENSP00000514456.1:p.Ile807Met
ENST00000699598.1:c.2421A>G	ENSP00000514467.1:p.Ile807Met
ENST00000699599.1:c.2421A>G	ENSP00000514468.1:p.Ile807Met
ENST00000699600.1:c.2421A>G	ENSP00000514469.1:p.Ile807Met
ENST00000699601.1:c.*721A>G	ENSP00000514470.1:n.*721A>G
ENST00000699602.1:c.2421A>G	ENSP00000514471.1:p.Ile807Met
ENST00000699604.1:c.*2245A>G	ENSP00000514472.1:n.*2245A>G
ENST00000699605.1:c.1995A>G	ENSP00000514473.1:p.Ile665Met
ENST00000687278.1:c.12A>G	ENSP00000509593.1:p.Ile4Met
ENST00000003084.11:c.2421A>G MANE Select	ENSP00000003084.6:p.Ile807Met
ENST00000647720.1:c.71A>G
ENST00000647978.1:c.*2135A>G	ENSP00000497658.1:n.*2135A>G
ENST00000648260.1:c.1402-10238A>G	ENSP00000497957.1:n.1402-10238A>G
ENST00000649406.1:c.2238A>G	ENSP00000497965.1:p.Ile746Met
ENST00000649781.1:c.2238A>G	ENSP00000497203.1:p.Ile746Met
ENST00000003084.10:c.2421A>G	ENSP00000003084.6:p.Ile807Met
ENST00000426809.5:c.2331A>G	ENSP00000389119.1:p.Ile777Met
NM_000492.3:c.2421A>G , LRG_663t1:c.2421A>G	NP_000483.3:p.Ile807Met
XM_011515751.1:c.2511A>G	XP_011514053.1:p.Ile837Met
XM_011515752.1:c.2511A>G	XP_011514054.1:p.Ile837Met
XM_011515753.1:c.2178A>G	XP_011514055.1:p.Ile726Met
XM_011515754.1:c.2178A>G	XP_011514056.1:p.Ile726Met
NM_000492.4:c.2421A>G MANE Select	NP_000483.3:p.Ile807Met