Canonical Allele Identifier: CA2580076335

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1732426
• ClinVar RCV Id: RCV002459458

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627592_117627607del , CM000669.2:g.117627592_117627607del	GRCh38
NC_000007.13:g.117267646_117267661del , CM000669.1:g.117267646_117267661del	GRCh37
NC_000007.12:g.117054882_117054897del	NCBI36
NG_016465.4:g.166809_166824del , LRG_663:g.166809_166824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+22_3517+37del	ENSP00000497673.2:n.3517+22_3517+37del
ENST00000647978.2:c.*3253_*3268del	ENSP00000497658.1:n.*3253_*3268del
ENST00000649781.2:c.3356_3371del	ENSP00000497203.1:p.Lys1119ThrfsTer7
ENST00000685018.2:c.3539_3554del	ENSP00000510194.2:p.Lys1180ThrfsTer7
ENST00000687278.2:c.*192_*207del	ENSP00000509593.2:n.*192_*207del
ENST00000699585.1:c.3517+22_3517+37del	ENSP00000514456.1:n.3517+22_3517+37del
ENST00000699598.1:c.3539_3554del	ENSP00000514467.1:p.Lys1180ThrfsTer7
ENST00000699599.1:c.3539_3554del	ENSP00000514468.1:p.Lys1180ThrfsTer7
ENST00000699600.1:c.*200_*215del	ENSP00000514469.1:n.*200_*215del
ENST00000699601.1:c.*1914_*1929del	ENSP00000514470.1:n.*1914_*1929del
ENST00000699602.1:c.3533_3548del	ENSP00000514471.1:p.Lys1178ThrfsTer7
ENST00000699604.1:c.*3363_*3378del	ENSP00000514472.1:n.*3363_*3378del
ENST00000699605.1:c.3113_3128del	ENSP00000514473.1:p.Lys1038ThrfsTer7
ENST00000685018.1:c.287_302del	ENSP00000510194.1:p.Lys96ThrfsTer7
ENST00000687278.1:c.1326_1341del	ENSP00000509593.1:n.1326_1341del
ENST00000689011.1:c.121_136del
ENST00000003084.11:c.3539_3554del MANE Select	ENSP00000003084.6:p.Lys1180ThrfsTer7
ENST00000647720.1:c.1167+22_1167+37del
ENST00000648260.1:c.2321_2336del	ENSP00000497957.1:p.Lys774ThrfsTer7
ENST00000649406.1:c.3356_3371del	ENSP00000497965.1:p.Lys1119ThrfsTer7
ENST00000649781.1:c.3356_3371del	ENSP00000497203.1:p.Lys1119ThrfsTer7
ENST00000003084.10:c.3539_3554del	ENSP00000003084.6:p.Lys1180ThrfsTer7
ENST00000426809.5:c.3449_3464del	ENSP00000389119.1:p.Lys1150ThrfsTer7
ENST00000468795.1:c.364_379del
NM_000492.3:c.3539_3554del , LRG_663t1:c.3539_3554del	NP_000483.3:p.Lys1180ThrfsTer7
XM_011515751.1:c.3629_3644del	XP_011514053.1:p.Lys1210ThrfsTer7
XM_011515752.1:c.3629_3644del	XP_011514054.1:p.Lys1210ThrfsTer7
XM_011515753.1:c.3296_3311del	XP_011514055.1:p.Lys1099ThrfsTer7
XM_011515754.1:c.3296_3311del	XP_011514056.1:p.Lys1099ThrfsTer7
NM_000492.4:c.3539_3554del MANE Select	NP_000483.3:p.Lys1180ThrfsTer7