Canonical Allele Identifier: CA368983716

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665533-T-C
• MyVariant Identifiers: chr7:g.117305587T>C (hg19) ; chr7:g.117665533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665533T>C , CM000669.2:g.117665533T>C	GRCh38
NC_000007.13:g.117305587T>C , CM000669.1:g.117305587T>C	GRCh37
NC_000007.12:g.117092823T>C	NCBI36
NG_016465.4:g.204750T>C , LRG_663:g.204750T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*420T>C	ENSP00000497673.2:n.*420T>C
ENST00000647978.2:c.*3925T>C	ENSP00000497658.1:n.*3925T>C
ENST00000649781.2:c.4028T>C	ENSP00000497203.1:p.Ile1343Thr
ENST00000685018.2:c.*424T>C	ENSP00000510194.2:n.*424T>C
ENST00000687278.2:c.*864T>C	ENSP00000509593.2:n.*864T>C
ENST00000699585.1:c.*420T>C	ENSP00000514456.1:n.*420T>C
ENST00000699598.1:c.4211T>C	ENSP00000514467.1:p.Ile1404Thr
ENST00000699599.1:c.*424T>C	ENSP00000514468.1:n.*424T>C
ENST00000699600.1:c.*872T>C	ENSP00000514469.1:n.*872T>C
ENST00000699601.1:c.*2586T>C	ENSP00000514470.1:n.*2586T>C
ENST00000699602.1:c.4205T>C	ENSP00000514471.1:p.Ile1402Thr
ENST00000699604.1:c.*4035T>C	ENSP00000514472.1:n.*4035T>C
ENST00000699605.1:c.3785T>C	ENSP00000514473.1:p.Ile1262Thr
ENST00000699606.1:n.2379T>C
ENST00000685018.1:c.1075T>C	ENSP00000510194.1:n.1075T>C
ENST00000687278.1:c.1998T>C	ENSP00000509593.1:n.1998T>C
ENST00000689011.1:c.793T>C
ENST00000003084.11:c.4211T>C MANE Select	ENSP00000003084.6:p.Ile1404Thr
ENST00000647720.1:c.1661T>C
ENST00000649781.1:c.4028T>C	ENSP00000497203.1:p.Ile1343Thr
ENST00000003084.10:c.4211T>C	ENSP00000003084.6:p.Ile1404Thr
ENST00000426809.5:c.4121T>C	ENSP00000389119.1:p.Ile1374Thr
ENST00000600166.1:c.337T>C
NM_000492.3:c.4211T>C , LRG_663t1:c.4211T>C	NP_000483.3:p.Ile1404Thr
XM_011515751.1:c.4301T>C	XP_011514053.1:p.Ile1434Thr
XM_011515752.1:c.4301T>C	XP_011514054.1:p.Ile1434Thr
XM_011515753.1:c.3968T>C	XP_011514055.1:p.Ile1323Thr
XM_011515754.1:c.3968T>C	XP_011514056.1:p.Ile1323Thr
NM_000492.4:c.4211T>C MANE Select	NP_000483.3:p.Ile1404Thr