Canonical Allele Identifier: CA1737392137

Gene: CFTR

Linked Data

• dbSNP Id: rs1792003695

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590180_117590213del , CM000669.2:g.117590180_117590213del	GRCh38
NC_000007.13:g.117230234_117230267del , CM000669.1:g.117230234_117230267del	GRCh37
NC_000007.12:g.117017470_117017503del	NCBI36
NG_016465.4:g.129397_129430del , LRG_663:g.129397_129430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1680-173_1680-140del	ENSP00000497673.2:n.1680-173_1680-140del
ENST00000647978.2:c.*1394-173_*1394-140del	ENSP00000497658.1:n.*1394-173_*1394-140del
ENST00000649781.2:c.1497-173_1497-140del	ENSP00000497203.1:n.1497-173_1497-140del
ENST00000685018.2:c.1680-173_1680-140del	ENSP00000510194.2:n.1680-173_1680-140del
ENST00000687278.2:c.1680-173_1680-140del	ENSP00000509593.2:n.1680-173_1680-140del
ENST00000699585.1:c.1680-173_1680-140del	ENSP00000514456.1:n.1680-173_1680-140del
ENST00000699598.1:c.1680-173_1680-140del	ENSP00000514467.1:n.1680-173_1680-140del
ENST00000699599.1:c.1680-173_1680-140del	ENSP00000514468.1:n.1680-173_1680-140del
ENST00000699600.1:c.1680-173_1680-140del	ENSP00000514469.1:n.1680-173_1680-140del
ENST00000699601.1:c.1680-178_1680-145del	ENSP00000514470.1:n.1680-178_1680-145del
ENST00000699602.1:c.1680-173_1680-140del	ENSP00000514471.1:n.1680-173_1680-140del
ENST00000699604.1:c.*1504-173_*1504-140del	ENSP00000514472.1:n.*1504-173_*1504-140del
ENST00000699605.1:c.1254-173_1254-140del	ENSP00000514473.1:n.1254-173_1254-140del
ENST00000003084.11:c.1680-173_1680-140del MANE Select	ENSP00000003084.6:n.1680-173_1680-140del
ENST00000647978.1:c.*1394-173_*1394-140del	ENSP00000497658.1:n.*1394-173_*1394-140del
ENST00000648260.1:c.1402-12646_1402-12613del	ENSP00000497957.1:n.1402-12646_1402-12613del
ENST00000649406.1:c.1497-173_1497-140del	ENSP00000497965.1:n.1497-173_1497-140del
ENST00000649781.1:c.1497-173_1497-140del	ENSP00000497203.1:n.1497-173_1497-140del
ENST00000003084.10:c.1680-173_1680-140del	ENSP00000003084.6:n.1680-173_1680-140del
ENST00000426809.5:c.1590-173_1590-140del	ENSP00000389119.1:n.1590-173_1590-140del
NM_000492.3:c.1680-173_1680-140del , LRG_663t1:c.1680-173_1680-140del	NP_000483.3:n.1680-173_1680-140del
XM_011515751.1:c.1770-173_1770-140del	XP_011514053.1:n.1770-173_1770-140del
XM_011515752.1:c.1770-173_1770-140del	XP_011514054.1:n.1770-173_1770-140del
XM_011515753.1:c.1437-173_1437-140del	XP_011514055.1:n.1437-173_1437-140del
XM_011515754.1:c.1437-173_1437-140del	XP_011514056.1:n.1437-173_1437-140del
NM_000492.4:c.1680-173_1680-140del MANE Select	NP_000483.3:n.1680-173_1680-140del