Canonical Allele Identifier: CA915945435
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 801153
ClinVar RCV Id: RCV000985687
dbSNP Id: rs1584821602

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610570_117610572del , CM000669.2:g.117610570_117610572del GRCh38
NC_000007.13:g.117250624_117250626del , CM000669.1:g.117250624_117250626del GRCh37
NC_000007.12:g.117037860_117037862del NCBI36
NG_016465.4:g.149787_149789del , LRG_663:g.149787_149789del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3040_3042del ENSP00000497673.2:p.Tyr1014del
ENST00000647978.2:c.*2754_*2756del ENSP00000497658.1:n.*2754_*2756del
ENST00000649781.2:c.2857_2859del ENSP00000497203.1:p.Tyr953del
ENST00000685018.2:c.3040_3042del ENSP00000510194.2:p.Tyr1014del
ENST00000687278.2:c.3040_3042del ENSP00000509593.2:p.Tyr1014del
ENST00000699585.1:c.3040_3042del ENSP00000514456.1:p.Tyr1014del
ENST00000699598.1:c.3040_3042del ENSP00000514467.1:p.Tyr1014del
ENST00000699599.1:c.3040_3042del ENSP00000514468.1:p.Tyr1014del
ENST00000699600.1:c.3040_3042del ENSP00000514469.1:p.Tyr1014del
ENST00000699601.1:c.*1340_*1342del ENSP00000514470.1:n.*1340_*1342del
ENST00000699602.1:c.3040_3042del ENSP00000514471.1:p.Tyr1014del
ENST00000699604.1:c.*2864_*2866del ENSP00000514472.1:n.*2864_*2866del
ENST00000699605.1:c.2614_2616del ENSP00000514473.1:p.Tyr872del
ENST00000687278.1:c.631_633del ENSP00000509593.1:p.Tyr211del
ENST00000003084.11:c.3040_3042del MANE Select ENSP00000003084.6:p.Tyr1014del
ENST00000647720.1:c.690_692del
ENST00000648260.1:c.1822_1824del ENSP00000497957.1:p.Tyr608del
ENST00000649406.1:c.2857_2859del ENSP00000497965.1:p.Tyr953del
ENST00000649781.1:c.2857_2859del ENSP00000497203.1:p.Tyr953del
ENST00000003084.10:c.3040_3042del ENSP00000003084.6:p.Tyr1014del
ENST00000426809.5:c.2950_2952del ENSP00000389119.1:p.Tyr984del
NM_000492.3:c.3040_3042del , LRG_663t1:c.3040_3042del NP_000483.3:p.Tyr1014del
XM_011515751.1:c.3130_3132del XP_011514053.1:p.Tyr1044del
XM_011515752.1:c.3130_3132del XP_011514054.1:p.Tyr1044del
XM_011515753.1:c.2797_2799del XP_011514055.1:p.Tyr933del
XM_011515754.1:c.2797_2799del XP_011514056.1:p.Tyr933del
NM_000492.4:c.3040_3042del MANE Select NP_000483.3:p.Tyr1014del