Canonical Allele Identifier: CA368974863

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282561A>C (hg19) ; chr7:g.117642507A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642507A>C , CM000669.2:g.117642507A>C	GRCh38
NC_000007.13:g.117282561A>C , CM000669.1:g.117282561A>C	GRCh37
NC_000007.12:g.117069797A>C	NCBI36
NG_016465.4:g.181724A>C , LRG_663:g.181724A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3587A>C	ENSP00000497673.2:p.His1196Pro
ENST00000647978.2:c.*3501A>C	ENSP00000497658.1:n.*3501A>C
ENST00000649781.2:c.3604A>C	ENSP00000497203.1:p.Thr1202Pro
ENST00000685018.2:c.3787A>C	ENSP00000510194.2:p.Thr1263Pro
ENST00000687278.2:c.*440A>C	ENSP00000509593.2:n.*440A>C
ENST00000699585.1:c.3587A>C	ENSP00000514456.1:p.His1196Pro
ENST00000699598.1:c.3787A>C	ENSP00000514467.1:p.Thr1263Pro
ENST00000699599.1:c.3787A>C	ENSP00000514468.1:p.Thr1263Pro
ENST00000699600.1:c.*448A>C	ENSP00000514469.1:n.*448A>C
ENST00000699601.1:c.*2162A>C	ENSP00000514470.1:n.*2162A>C
ENST00000699602.1:c.3781A>C	ENSP00000514471.1:p.Thr1261Pro
ENST00000699604.1:c.*3611A>C	ENSP00000514472.1:n.*3611A>C
ENST00000699605.1:c.3361A>C	ENSP00000514473.1:p.Thr1121Pro
ENST00000685018.1:c.535A>C	ENSP00000510194.1:p.Thr179Pro
ENST00000687278.1:c.1574A>C	ENSP00000509593.1:n.1574A>C
ENST00000689011.1:c.369A>C
ENST00000003084.11:c.3787A>C MANE Select	ENSP00000003084.6:p.Thr1263Pro
ENST00000647720.1:c.1237A>C
ENST00000649781.1:c.3604A>C	ENSP00000497203.1:p.Thr1202Pro
ENST00000003084.10:c.3787A>C	ENSP00000003084.6:p.Thr1263Pro
ENST00000426809.5:c.3697A>C	ENSP00000389119.1:p.Thr1233Pro
NM_000492.3:c.3787A>C , LRG_663t1:c.3787A>C	NP_000483.3:p.Thr1263Pro
XM_011515751.1:c.3877A>C	XP_011514053.1:p.Thr1293Pro
XM_011515752.1:c.3877A>C	XP_011514054.1:p.Thr1293Pro
XM_011515753.1:c.3544A>C	XP_011514055.1:p.Thr1182Pro
XM_011515754.1:c.3544A>C	XP_011514056.1:p.Thr1182Pro
NM_000492.4:c.3787A>C MANE Select	NP_000483.3:p.Thr1263Pro