Canonical Allele Identifier: CA4451629

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664821T>C , CM000669.2:g.117664821T>C	GRCh38
NC_000007.13:g.117304875T>C , CM000669.1:g.117304875T>C	GRCh37
NC_000007.12:g.117092111T>C	NCBI36
NG_016465.4:g.204038T>C , LRG_663:g.204038T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4097T>C MANE Select	NP_000483.3:p.Ile1366Thr
ENST00000003084.11:c.4097T>C MANE Select	ENSP00000003084.6:p.Ile1366Thr
NM_000492.3:c.4097T>C , LRG_663t1:c.4097T>C	NP_000483.3:p.Ile1366Thr
ENST00000003084.10:c.4097T>C	ENSP00000003084.6:p.Ile1366Thr
ENST00000426809.5:c.4007T>C	ENSP00000389119.1:p.Ile1336Thr
ENST00000600166.1:c.223T>C
ENST00000647720.1:c.1547T>C
ENST00000647720.2:c.*306T>C	ENSP00000497673.2:n.*306T>C
ENST00000647978.2:c.*3811T>C	ENSP00000497658.1:n.*3811T>C
ENST00000649781.1:c.3914T>C	ENSP00000497203.1:p.Ile1305Thr
ENST00000649781.2:c.3914T>C	ENSP00000497203.1:p.Ile1305Thr
ENST00000685018.1:c.961T>C	ENSP00000510194.1:n.961T>C
ENST00000685018.2:c.*310T>C	ENSP00000510194.2:n.*310T>C
ENST00000687278.1:c.1884T>C	ENSP00000509593.1:n.1884T>C
ENST00000687278.2:c.*750T>C	ENSP00000509593.2:n.*750T>C
ENST00000689011.1:c.679T>C
ENST00000699585.1:c.*306T>C	ENSP00000514456.1:n.*306T>C
ENST00000699598.1:c.4097T>C	ENSP00000514467.1:p.Ile1366Thr
ENST00000699599.1:c.*310T>C	ENSP00000514468.1:n.*310T>C
ENST00000699600.1:c.*758T>C	ENSP00000514469.1:n.*758T>C
ENST00000699601.1:c.*2472T>C	ENSP00000514470.1:n.*2472T>C
ENST00000699602.1:c.4091T>C	ENSP00000514471.1:p.Ile1364Thr
ENST00000699604.1:c.*3921T>C	ENSP00000514472.1:n.*3921T>C
ENST00000699605.1:c.3671T>C	ENSP00000514473.1:p.Ile1224Thr
ENST00000699606.1:n.2265T>C
XM_011515751.1:c.4187T>C	XP_011514053.1:p.Ile1396Thr
XM_011515752.1:c.4187T>C	XP_011514054.1:p.Ile1396Thr
XM_011515753.1:c.3854T>C	XP_011514055.1:p.Ile1285Thr
XM_011515754.1:c.3854T>C	XP_011514056.1:p.Ile1285Thr