Canonical Allele Identifier: CA368975268

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282600T>A (hg19) ; chr7:g.117642546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642546T>A , CM000669.2:g.117642546T>A	GRCh38
NC_000007.13:g.117282600T>A , CM000669.1:g.117282600T>A	GRCh37
NC_000007.12:g.117069836T>A	NCBI36
NG_016465.4:g.181763T>A , LRG_663:g.181763T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*35T>A	ENSP00000497673.2:n.*35T>A
ENST00000647978.2:c.*3540T>A	ENSP00000497658.1:n.*3540T>A
ENST00000649781.2:c.3643T>A	ENSP00000497203.1:p.Ser1215Thr
ENST00000685018.2:c.3826T>A	ENSP00000510194.2:p.Ser1276Thr
ENST00000687278.2:c.*479T>A	ENSP00000509593.2:n.*479T>A
ENST00000699585.1:c.*35T>A	ENSP00000514456.1:n.*35T>A
ENST00000699598.1:c.3826T>A	ENSP00000514467.1:p.Ser1276Thr
ENST00000699599.1:c.3826T>A	ENSP00000514468.1:p.Ser1276Thr
ENST00000699600.1:c.*487T>A	ENSP00000514469.1:n.*487T>A
ENST00000699601.1:c.*2201T>A	ENSP00000514470.1:n.*2201T>A
ENST00000699602.1:c.3820T>A	ENSP00000514471.1:p.Ser1274Thr
ENST00000699604.1:c.*3650T>A	ENSP00000514472.1:n.*3650T>A
ENST00000699605.1:c.3400T>A	ENSP00000514473.1:p.Ser1134Thr
ENST00000685018.1:c.574T>A	ENSP00000510194.1:p.Ser192Thr
ENST00000687278.1:c.1613T>A	ENSP00000509593.1:n.1613T>A
ENST00000689011.1:c.408T>A
ENST00000003084.11:c.3826T>A MANE Select	ENSP00000003084.6:p.Ser1276Thr
ENST00000647720.1:c.1276T>A
ENST00000649781.1:c.3643T>A	ENSP00000497203.1:p.Ser1215Thr
ENST00000003084.10:c.3826T>A	ENSP00000003084.6:p.Ser1276Thr
ENST00000426809.5:c.3736T>A	ENSP00000389119.1:p.Ser1246Thr
NM_000492.3:c.3826T>A , LRG_663t1:c.3826T>A	NP_000483.3:p.Ser1276Thr
XM_011515751.1:c.3916T>A	XP_011514053.1:p.Ser1306Thr
XM_011515752.1:c.3916T>A	XP_011514054.1:p.Ser1306Thr
XM_011515753.1:c.3583T>A	XP_011514055.1:p.Ser1195Thr
XM_011515754.1:c.3583T>A	XP_011514056.1:p.Ser1195Thr
NM_000492.4:c.3826T>A MANE Select	NP_000483.3:p.Ser1276Thr