Canonical Allele Identifier: CA164944791

Gene: CFTR

Linked Data

• dbSNP Id: rs758355733
• MyVariant Identifiers: chr7:g.117227628_117227634del (hg19) ; chr7:g.117587574_117587580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587574_117587580del , CM000669.2:g.117587574_117587580del	GRCh38
NC_000007.13:g.117227628_117227634del , CM000669.1:g.117227628_117227634del	GRCh37
NC_000007.12:g.117014864_117014870del	NCBI36
NG_016465.4:g.126791_126797del , LRG_663:g.126791_126797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1585-165_1585-159del	ENSP00000497673.2:n.1585-165_1585-159del
ENST00000647978.2:c.*1299-165_*1299-159del	ENSP00000497658.1:n.*1299-165_*1299-159del
ENST00000649781.2:c.1402-165_1402-159del	ENSP00000497203.1:n.1402-165_1402-159del
ENST00000685018.2:c.1585-165_1585-159del	ENSP00000510194.2:n.1585-165_1585-159del
ENST00000687278.2:c.1585-165_1585-159del	ENSP00000509593.2:n.1585-165_1585-159del
ENST00000699585.1:c.1585-165_1585-159del	ENSP00000514456.1:n.1585-165_1585-159del
ENST00000699598.1:c.1585-165_1585-159del	ENSP00000514467.1:n.1585-165_1585-159del
ENST00000699599.1:c.1585-165_1585-159del	ENSP00000514468.1:n.1585-165_1585-159del
ENST00000699600.1:c.1585-165_1585-159del	ENSP00000514469.1:n.1585-165_1585-159del
ENST00000699601.1:c.1585-165_1585-159del	ENSP00000514470.1:n.1585-165_1585-159del
ENST00000699602.1:c.1585-165_1585-159del	ENSP00000514471.1:n.1585-165_1585-159del
ENST00000699604.1:c.*1409-165_*1409-159del	ENSP00000514472.1:n.*1409-165_*1409-159del
ENST00000699605.1:c.1159-165_1159-159del	ENSP00000514473.1:n.1159-165_1159-159del
ENST00000003084.11:c.1585-165_1585-159del MANE Select	ENSP00000003084.6:n.1585-165_1585-159del
ENST00000647978.1:c.*1299-165_*1299-159del	ENSP00000497658.1:n.*1299-165_*1299-159del
ENST00000648260.1:c.1402-15252_1402-15246del	ENSP00000497957.1:n.1402-15252_1402-15246del
ENST00000649406.1:c.1402-165_1402-159del	ENSP00000497965.1:n.1402-165_1402-159del
ENST00000649781.1:c.1402-165_1402-159del	ENSP00000497203.1:n.1402-165_1402-159del
ENST00000003084.10:c.1585-165_1585-159del	ENSP00000003084.6:n.1585-165_1585-159del
ENST00000426809.5:c.1495-165_1495-159del	ENSP00000389119.1:n.1495-165_1495-159del
ENST00000472848.1:n.138-165_138-159del
NM_000492.3:c.1585-165_1585-159del , LRG_663t1:c.1585-165_1585-159del	NP_000483.3:n.1585-165_1585-159del
XM_011515751.1:c.1675-165_1675-159del	XP_011514053.1:n.1675-165_1675-159del
XM_011515752.1:c.1675-165_1675-159del	XP_011514054.1:n.1675-165_1675-159del
XM_011515753.1:c.1342-165_1342-159del	XP_011514055.1:n.1342-165_1342-159del
XM_011515754.1:c.1342-165_1342-159del	XP_011514056.1:n.1342-165_1342-159del
NM_000492.4:c.1585-165_1585-159del MANE Select	NP_000483.3:n.1585-165_1585-159del