Canonical Allele Identifier: CA368975271

Gene: CFTR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*35T>C	ENSP00000497673.2:n.*35T>C
ENST00000647978.2:c.*3540T>C	ENSP00000497658.1:n.*3540T>C
ENST00000649781.2:c.3643T>C	ENSP00000497203.1:p.Ser1215Pro
ENST00000685018.2:c.3826T>C	ENSP00000510194.2:p.Ser1276Pro
ENST00000687278.2:c.*479T>C	ENSP00000509593.2:n.*479T>C
ENST00000699585.1:c.*35T>C	ENSP00000514456.1:n.*35T>C
ENST00000699598.1:c.3826T>C	ENSP00000514467.1:p.Ser1276Pro
ENST00000699599.1:c.3826T>C	ENSP00000514468.1:p.Ser1276Pro
ENST00000699600.1:c.*487T>C	ENSP00000514469.1:n.*487T>C
ENST00000699601.1:c.*2201T>C	ENSP00000514470.1:n.*2201T>C
ENST00000699602.1:c.3820T>C	ENSP00000514471.1:p.Ser1274Pro
ENST00000699604.1:c.*3650T>C	ENSP00000514472.1:n.*3650T>C
ENST00000699605.1:c.3400T>C	ENSP00000514473.1:p.Ser1134Pro
ENST00000685018.1:c.574T>C	ENSP00000510194.1:p.Ser192Pro
ENST00000687278.1:c.1613T>C	ENSP00000509593.1:n.1613T>C
ENST00000689011.1:c.408T>C
ENST00000003084.11:c.3826T>C MANE Select	ENSP00000003084.6:p.Ser1276Pro
ENST00000647720.1:c.1276T>C
ENST00000649781.1:c.3643T>C	ENSP00000497203.1:p.Ser1215Pro
ENST00000003084.10:c.3826T>C	ENSP00000003084.6:p.Ser1276Pro
ENST00000426809.5:c.3736T>C	ENSP00000389119.1:p.Ser1246Pro
NM_000492.3:c.3826T>C , LRG_663t1:c.3826T>C	NP_000483.3:p.Ser1276Pro
XM_011515751.1:c.3916T>C	XP_011514053.1:p.Ser1306Pro
XM_011515752.1:c.3916T>C	XP_011514054.1:p.Ser1306Pro
XM_011515753.1:c.3583T>C	XP_011514055.1:p.Ser1195Pro
XM_011515754.1:c.3583T>C	XP_011514056.1:p.Ser1195Pro
NM_000492.4:c.3826T>C MANE Select	NP_000483.3:p.Ser1276Pro