Canonical Allele Identifier: CA457449025

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1613209
• ClinVar RCV Id: RCV002171158
• dbSNP Id: rs1470966740
• MyVariant Identifiers: chr7:g.117232279T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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