Canonical Allele Identifier: CA2580076307

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2121909
• ClinVar RCV Id: RCV003043432

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587769del , CM000669.2:g.117587769del	GRCh38
NC_000007.13:g.117227823del , CM000669.1:g.117227823del	GRCh37
NC_000007.12:g.117015059del	NCBI36
NG_016465.4:g.126986del , LRG_663:g.126986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1615del	ENSP00000497673.2:p.Ile539Ter
ENST00000647978.2:c.*1329del	ENSP00000497658.1:n.*1329del
ENST00000649781.2:c.1432del	ENSP00000497203.1:p.Ile478Ter
ENST00000685018.2:c.1615del	ENSP00000510194.2:p.Ile539Ter
ENST00000687278.2:c.1615del	ENSP00000509593.2:p.Ile539Ter
ENST00000699585.1:c.1615del	ENSP00000514456.1:p.Ile539Ter
ENST00000699598.1:c.1615del	ENSP00000514467.1:p.Ile539Ter
ENST00000699599.1:c.1615del	ENSP00000514468.1:p.Ile539Ter
ENST00000699600.1:c.1615del	ENSP00000514469.1:p.Ile539Ter
ENST00000699601.1:c.1615del	ENSP00000514470.1:p.Ile539Ter
ENST00000699602.1:c.1615del	ENSP00000514471.1:p.Ile539Ter
ENST00000699604.1:c.*1439del	ENSP00000514472.1:n.*1439del
ENST00000699605.1:c.1189del	ENSP00000514473.1:p.Ile397Ter
ENST00000003084.11:c.1615del MANE Select	ENSP00000003084.6:p.Ile539Ter
ENST00000647978.1:c.*1329del	ENSP00000497658.1:n.*1329del
ENST00000648260.1:c.1402-15057del	ENSP00000497957.1:n.1402-15057del
ENST00000649406.1:c.1432del	ENSP00000497965.1:p.Ile478Ter
ENST00000649781.1:c.1432del	ENSP00000497203.1:p.Ile478Ter
ENST00000003084.10:c.1615del	ENSP00000003084.6:p.Ile539Ter
ENST00000426809.5:c.1525del	ENSP00000389119.1:p.Ile509Ter
NM_000492.3:c.1615del , LRG_663t1:c.1615del	NP_000483.3:p.Ile539Ter
XM_011515751.1:c.1705del	XP_011514053.1:p.Ile569Ter
XM_011515752.1:c.1705del	XP_011514054.1:p.Ile569Ter
XM_011515753.1:c.1372del	XP_011514055.1:p.Ile458Ter
XM_011515754.1:c.1372del	XP_011514056.1:p.Ile458Ter
NM_000492.4:c.1615del MANE Select	NP_000483.3:p.Ile539Ter