Canonical Allele Identifier: CA457449023

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592225-T-A
• MyVariant Identifiers: chr7:g.117232279T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592225T>A , CM000669.2:g.117592225T>A	GRCh38
NC_000007.13:g.117232279T>A , CM000669.1:g.117232279T>A	GRCh37
NC_000007.12:g.117019515T>A	NCBI36
NG_016465.4:g.131442T>A , LRG_663:g.131442T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2058T>A	ENSP00000497673.2:p.Ser686=
ENST00000647978.2:c.*1772T>A	ENSP00000497658.1:n.*1772T>A
ENST00000649781.2:c.1875T>A	ENSP00000497203.1:p.Ser625=
ENST00000685018.2:c.2058T>A	ENSP00000510194.2:p.Ser686=
ENST00000687278.2:c.2058T>A	ENSP00000509593.2:p.Ser686=
ENST00000699585.1:c.2058T>A	ENSP00000514456.1:p.Ser686=
ENST00000699598.1:c.2058T>A	ENSP00000514467.1:p.Ser686=
ENST00000699599.1:c.2058T>A	ENSP00000514468.1:p.Ser686=
ENST00000699600.1:c.2058T>A	ENSP00000514469.1:p.Ser686=
ENST00000699601.1:c.*358T>A	ENSP00000514470.1:n.*358T>A
ENST00000699602.1:c.2058T>A	ENSP00000514471.1:p.Ser686=
ENST00000699604.1:c.*1882T>A	ENSP00000514472.1:n.*1882T>A
ENST00000699605.1:c.1632T>A	ENSP00000514473.1:p.Ser544=
ENST00000003084.11:c.2058T>A MANE Select	ENSP00000003084.6:p.Ser686=
ENST00000647978.1:c.*1772T>A	ENSP00000497658.1:n.*1772T>A
ENST00000648260.1:c.1402-10601T>A	ENSP00000497957.1:n.1402-10601T>A
ENST00000649406.1:c.1875T>A	ENSP00000497965.1:p.Ser625=
ENST00000649781.1:c.1875T>A	ENSP00000497203.1:p.Ser625=
ENST00000003084.10:c.2058T>A	ENSP00000003084.6:p.Ser686=
ENST00000426809.5:c.1968T>A	ENSP00000389119.1:p.Ser656=
NM_000492.3:c.2058T>A , LRG_663t1:c.2058T>A	NP_000483.3:p.Ser686=
XM_011515751.1:c.2148T>A	XP_011514053.1:p.Ser716=
XM_011515752.1:c.2148T>A	XP_011514054.1:p.Ser716=
XM_011515753.1:c.1815T>A	XP_011514055.1:p.Ser605=
XM_011515754.1:c.1815T>A	XP_011514056.1:p.Ser605=
NM_000492.4:c.2058T>A MANE Select	NP_000483.3:p.Ser686=