Canonical Allele Identifier: CA4451309

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1797521
• ClinVar RCV Id: RCV002439771
• dbSNP Id: rs377502207
• ExAC: 7:117243835 A / G
• gnomAD v2: 7-117243835-A-G
• gnomAD v4: 7-117603781-A-G
• MyVariant Identifiers: chr7:g.117243835A>G (hg19) ; chr7:g.117603781A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603781A>G , CM000669.2:g.117603781A>G	GRCh38
NC_000007.13:g.117243835A>G , CM000669.1:g.117243835A>G	GRCh37
NC_000007.12:g.117031071A>G	NCBI36
NG_016465.4:g.142998A>G , LRG_663:g.142998A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2907A>G	ENSP00000497673.2:p.Ala969=
ENST00000647978.2:c.*2621A>G	ENSP00000497658.1:n.*2621A>G
ENST00000649781.2:c.2724A>G	ENSP00000497203.1:p.Ala908=
ENST00000685018.2:c.2907A>G	ENSP00000510194.2:p.Ala969=
ENST00000687278.2:c.2907A>G	ENSP00000509593.2:p.Ala969=
ENST00000699585.1:c.2907A>G	ENSP00000514456.1:p.Ala969=
ENST00000699598.1:c.2907A>G	ENSP00000514467.1:p.Ala969=
ENST00000699599.1:c.2907A>G	ENSP00000514468.1:p.Ala969=
ENST00000699600.1:c.2907A>G	ENSP00000514469.1:p.Ala969=
ENST00000699601.1:c.*1207A>G	ENSP00000514470.1:n.*1207A>G
ENST00000699602.1:c.2907A>G	ENSP00000514471.1:p.Ala969=
ENST00000699604.1:c.*2731A>G	ENSP00000514472.1:n.*2731A>G
ENST00000699605.1:c.2481A>G	ENSP00000514473.1:p.Ala827=
ENST00000687278.1:c.498A>G	ENSP00000509593.1:p.Ala166=
ENST00000003084.11:c.2907A>G MANE Select	ENSP00000003084.6:p.Ala969=
ENST00000647720.1:c.557A>G
ENST00000648260.1:c.1689A>G	ENSP00000497957.1:p.Ala563=
ENST00000649406.1:c.2724A>G	ENSP00000497965.1:p.Ala908=
ENST00000649781.1:c.2724A>G	ENSP00000497203.1:p.Ala908=
ENST00000003084.10:c.2907A>G	ENSP00000003084.6:p.Ala969=
ENST00000426809.5:c.2817A>G	ENSP00000389119.1:p.Ala939=
NM_000492.3:c.2907A>G , LRG_663t1:c.2907A>G	NP_000483.3:p.Ala969=
XM_011515751.1:c.2997A>G	XP_011514053.1:p.Ala999=
XM_011515752.1:c.2997A>G	XP_011514054.1:p.Ala999=
XM_011515753.1:c.2664A>G	XP_011514055.1:p.Ala888=
XM_011515754.1:c.2664A>G	XP_011514056.1:p.Ala888=
NM_000492.4:c.2907A>G MANE Select	NP_000483.3:p.Ala969=