Canonical Allele Identifier: CA368983363

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305524T>C (hg19) ; chr7:g.117665470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665470T>C , CM000669.2:g.117665470T>C	GRCh38
NC_000007.13:g.117305524T>C , CM000669.1:g.117305524T>C	GRCh37
NC_000007.12:g.117092760T>C	NCBI36
NG_016465.4:g.204687T>C , LRG_663:g.204687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*357T>C	ENSP00000497673.2:n.*357T>C
ENST00000647978.2:c.*3862T>C	ENSP00000497658.1:n.*3862T>C
ENST00000649781.2:c.3965T>C	ENSP00000497203.1:p.Ile1322Thr
ENST00000685018.2:c.*361T>C	ENSP00000510194.2:n.*361T>C
ENST00000687278.2:c.*801T>C	ENSP00000509593.2:n.*801T>C
ENST00000699585.1:c.*357T>C	ENSP00000514456.1:n.*357T>C
ENST00000699598.1:c.4148T>C	ENSP00000514467.1:p.Ile1383Thr
ENST00000699599.1:c.*361T>C	ENSP00000514468.1:n.*361T>C
ENST00000699600.1:c.*809T>C	ENSP00000514469.1:n.*809T>C
ENST00000699601.1:c.*2523T>C	ENSP00000514470.1:n.*2523T>C
ENST00000699602.1:c.4142T>C	ENSP00000514471.1:p.Ile1381Thr
ENST00000699604.1:c.*3972T>C	ENSP00000514472.1:n.*3972T>C
ENST00000699605.1:c.3722T>C	ENSP00000514473.1:p.Ile1241Thr
ENST00000699606.1:n.2316T>C
ENST00000685018.1:c.1012T>C	ENSP00000510194.1:n.1012T>C
ENST00000687278.1:c.1935T>C	ENSP00000509593.1:n.1935T>C
ENST00000689011.1:c.730T>C
ENST00000003084.11:c.4148T>C MANE Select	ENSP00000003084.6:p.Ile1383Thr
ENST00000647720.1:c.1598T>C
ENST00000649781.1:c.3965T>C	ENSP00000497203.1:p.Ile1322Thr
ENST00000003084.10:c.4148T>C	ENSP00000003084.6:p.Ile1383Thr
ENST00000426809.5:c.4058T>C	ENSP00000389119.1:p.Ile1353Thr
ENST00000600166.1:c.274T>C
NM_000492.3:c.4148T>C , LRG_663t1:c.4148T>C	NP_000483.3:p.Ile1383Thr
XM_011515751.1:c.4238T>C	XP_011514053.1:p.Ile1413Thr
XM_011515752.1:c.4238T>C	XP_011514054.1:p.Ile1413Thr
XM_011515753.1:c.3905T>C	XP_011514055.1:p.Ile1302Thr
XM_011515754.1:c.3905T>C	XP_011514056.1:p.Ile1302Thr
NM_000492.4:c.4148T>C MANE Select	NP_000483.3:p.Ile1383Thr