Canonical Allele Identifier: CA16041134
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 371135
ClinVar RCV Id: RCV000409306
dbSNP Id: rs1057517032

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603728del , CM000669.2:g.117603728del GRCh38
NC_000007.13:g.117243782del , CM000669.1:g.117243782del GRCh37
NC_000007.12:g.117031018del NCBI36
NG_016465.4:g.142945del , LRG_663:g.142945del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2854del ENSP00000497673.2:p.Met952CysfsTer16
ENST00000647978.2:c.*2568del ENSP00000497658.1:n.*2568del
ENST00000649781.2:c.2671del ENSP00000497203.1:p.Met891CysfsTer16
ENST00000685018.2:c.2854del ENSP00000510194.2:p.Met952CysfsTer16
ENST00000687278.2:c.2854del ENSP00000509593.2:p.Met952CysfsTer16
ENST00000699585.1:c.2854del ENSP00000514456.1:p.Met952CysfsTer16
ENST00000699598.1:c.2854del ENSP00000514467.1:p.Met952CysfsTer16
ENST00000699599.1:c.2854del ENSP00000514468.1:p.Met952CysfsTer16
ENST00000699600.1:c.2854del ENSP00000514469.1:p.Met952CysfsTer16
ENST00000699601.1:c.*1154del ENSP00000514470.1:n.*1154del
ENST00000699602.1:c.2854del ENSP00000514471.1:p.Met952CysfsTer16
ENST00000699604.1:c.*2678del ENSP00000514472.1:n.*2678del
ENST00000699605.1:c.2428del ENSP00000514473.1:p.Met810CysfsTer16
ENST00000687278.1:c.445del ENSP00000509593.1:p.Met149CysfsTer16
ENST00000003084.11:c.2854del MANE Select ENSP00000003084.6:p.Met952CysfsTer16
ENST00000647720.1:c.504del
ENST00000648260.1:c.1636del ENSP00000497957.1:p.Met546CysfsTer16
ENST00000649406.1:c.2671del ENSP00000497965.1:p.Met891CysfsTer16
ENST00000649781.1:c.2671del ENSP00000497203.1:p.Met891CysfsTer16
ENST00000003084.10:c.2854del ENSP00000003084.6:p.Met952CysfsTer16
ENST00000426809.5:c.2764del ENSP00000389119.1:p.Met922CysfsTer16
NM_000492.3:c.2854del , LRG_663t1:c.2854del NP_000483.3:p.Met952CysfsTer16
XM_011515751.1:c.2944del XP_011514053.1:p.Met982CysfsTer16
XM_011515752.1:c.2944del XP_011514054.1:p.Met982CysfsTer16
XM_011515753.1:c.2611del XP_011514055.1:p.Met871CysfsTer16
XM_011515754.1:c.2611del XP_011514056.1:p.Met871CysfsTer16
NM_000492.4:c.2854del MANE Select NP_000483.3:p.Met952CysfsTer16