Canonical Allele Identifier: CA368983570

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305562A>G (hg19) ; chr7:g.117665508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665508A>G , CM000669.2:g.117665508A>G	GRCh38
NC_000007.13:g.117305562A>G , CM000669.1:g.117305562A>G	GRCh37
NC_000007.12:g.117092798A>G	NCBI36
NG_016465.4:g.204725A>G , LRG_663:g.204725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*395A>G	ENSP00000497673.2:n.*395A>G
ENST00000647978.2:c.*3900A>G	ENSP00000497658.1:n.*3900A>G
ENST00000649781.2:c.4003A>G	ENSP00000497203.1:p.Thr1335Ala
ENST00000685018.2:c.*399A>G	ENSP00000510194.2:n.*399A>G
ENST00000687278.2:c.*839A>G	ENSP00000509593.2:n.*839A>G
ENST00000699585.1:c.*395A>G	ENSP00000514456.1:n.*395A>G
ENST00000699598.1:c.4186A>G	ENSP00000514467.1:p.Thr1396Ala
ENST00000699599.1:c.*399A>G	ENSP00000514468.1:n.*399A>G
ENST00000699600.1:c.*847A>G	ENSP00000514469.1:n.*847A>G
ENST00000699601.1:c.*2561A>G	ENSP00000514470.1:n.*2561A>G
ENST00000699602.1:c.4180A>G	ENSP00000514471.1:p.Thr1394Ala
ENST00000699604.1:c.*4010A>G	ENSP00000514472.1:n.*4010A>G
ENST00000699605.1:c.3760A>G	ENSP00000514473.1:p.Thr1254Ala
ENST00000699606.1:n.2354A>G
ENST00000685018.1:c.1050A>G	ENSP00000510194.1:n.1050A>G
ENST00000687278.1:c.1973A>G	ENSP00000509593.1:n.1973A>G
ENST00000689011.1:c.768A>G
ENST00000003084.11:c.4186A>G MANE Select	ENSP00000003084.6:p.Thr1396Ala
ENST00000647720.1:c.1636A>G
ENST00000649781.1:c.4003A>G	ENSP00000497203.1:p.Thr1335Ala
ENST00000003084.10:c.4186A>G	ENSP00000003084.6:p.Thr1396Ala
ENST00000426809.5:c.4096A>G	ENSP00000389119.1:p.Thr1366Ala
ENST00000600166.1:c.312A>G
NM_000492.3:c.4186A>G , LRG_663t1:c.4186A>G	NP_000483.3:p.Thr1396Ala
XM_011515751.1:c.4276A>G	XP_011514053.1:p.Thr1426Ala
XM_011515752.1:c.4276A>G	XP_011514054.1:p.Thr1426Ala
XM_011515753.1:c.3943A>G	XP_011514055.1:p.Thr1315Ala
XM_011515754.1:c.3943A>G	XP_011514056.1:p.Thr1315Ala
NM_000492.4:c.4186A>G MANE Select	NP_000483.3:p.Thr1396Ala