Canonical Allele Identifier: CA326547

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53293
• ClinVar RCV Id: RCV000730611 ; RCV001857384
• dbSNP Id: rs397508236
• gnomAD v4: 7-117587740-A-G
• MyVariant Identifiers: chr7:g.117227794A>G (hg19) ; chr7:g.117587740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587740A>G , CM000669.2:g.117587740A>G	GRCh38
NC_000007.13:g.117227794A>G , CM000669.1:g.117227794A>G	GRCh37
NC_000007.12:g.117015030A>G	NCBI36
NG_016465.4:g.126957A>G , LRG_663:g.126957A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1586A>G	ENSP00000497673.2:p.Asp529Gly
ENST00000647978.2:c.*1300A>G	ENSP00000497658.1:n.*1300A>G
ENST00000649781.2:c.1403A>G	ENSP00000497203.1:p.Asp468Gly
ENST00000685018.2:c.1586A>G	ENSP00000510194.2:p.Asp529Gly
ENST00000687278.2:c.1586A>G	ENSP00000509593.2:p.Asp529Gly
ENST00000699585.1:c.1586A>G	ENSP00000514456.1:p.Asp529Gly
ENST00000699598.1:c.1586A>G	ENSP00000514467.1:p.Asp529Gly
ENST00000699599.1:c.1586A>G	ENSP00000514468.1:p.Asp529Gly
ENST00000699600.1:c.1586A>G	ENSP00000514469.1:p.Asp529Gly
ENST00000699601.1:c.1586A>G	ENSP00000514470.1:p.Asp529Gly
ENST00000699602.1:c.1586A>G	ENSP00000514471.1:p.Asp529Gly
ENST00000699604.1:c.*1410A>G	ENSP00000514472.1:n.*1410A>G
ENST00000699605.1:c.1160A>G	ENSP00000514473.1:p.Asp387Gly
ENST00000003084.11:c.1586A>G MANE Select	ENSP00000003084.6:p.Asp529Gly
ENST00000647978.1:c.*1300A>G	ENSP00000497658.1:n.*1300A>G
ENST00000648260.1:c.1402-15086A>G	ENSP00000497957.1:n.1402-15086A>G
ENST00000649406.1:c.1403A>G	ENSP00000497965.1:p.Asp468Gly
ENST00000649781.1:c.1403A>G	ENSP00000497203.1:p.Asp468Gly
ENST00000003084.10:c.1586A>G	ENSP00000003084.6:p.Asp529Gly
ENST00000426809.5:c.1496A>G	ENSP00000389119.1:p.Asp499Gly
ENST00000472848.1:n.139A>G
NM_000492.3:c.1586A>G , LRG_663t1:c.1586A>G	NP_000483.3:p.Asp529Gly
XM_011515751.1:c.1676A>G	XP_011514053.1:p.Asp559Gly
XM_011515752.1:c.1676A>G	XP_011514054.1:p.Asp559Gly
XM_011515753.1:c.1343A>G	XP_011514055.1:p.Asp448Gly
XM_011515754.1:c.1343A>G	XP_011514056.1:p.Asp448Gly
NM_000492.4:c.1586A>G MANE Select	NP_000483.3:p.Asp529Gly