Canonical Allele Identifier: CA16041136
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 371056
dbSNP Id: rs1057516970

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627548del , CM000669.2:g.117627548del GRCh38
NC_000007.13:g.117267602del , CM000669.1:g.117267602del GRCh37
NC_000007.12:g.117054838del NCBI36
NG_016465.4:g.166765del , LRG_663:g.166765del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3495del ENSP00000497673.2:p.Lys1165AsnfsTer?
ENST00000647978.2:c.*3209del ENSP00000497658.1:n.*3209del
ENST00000649781.2:c.3312del ENSP00000497203.1:p.Lys1104AsnfsTer27
ENST00000685018.2:c.3495del ENSP00000510194.2:p.Lys1165AsnfsTer27
ENST00000687278.2:c.*148del ENSP00000509593.2:n.*148del
ENST00000699585.1:c.3495del ENSP00000514456.1:p.Lys1165AsnfsTer?
ENST00000699598.1:c.3495del ENSP00000514467.1:p.Lys1165AsnfsTer27
ENST00000699599.1:c.3495del ENSP00000514468.1:p.Lys1165AsnfsTer27
ENST00000699600.1:c.*156del ENSP00000514469.1:n.*156del
ENST00000699601.1:c.*1870del ENSP00000514470.1:n.*1870del
ENST00000699602.1:c.3489del ENSP00000514471.1:p.Lys1163AsnfsTer27
ENST00000699604.1:c.*3319del ENSP00000514472.1:n.*3319del
ENST00000699605.1:c.3069del ENSP00000514473.1:p.Lys1023AsnfsTer27
ENST00000685018.1:c.243del ENSP00000510194.1:p.Lys81AsnfsTer27
ENST00000687278.1:c.1282del ENSP00000509593.1:n.1282del
ENST00000689011.1:c.77del
ENST00000003084.11:c.3495del MANE Select ENSP00000003084.6:p.Lys1165AsnfsTer27
ENST00000647720.1:c.1145del
ENST00000648260.1:c.2277del ENSP00000497957.1:p.Lys759AsnfsTer27
ENST00000649406.1:c.3312del ENSP00000497965.1:p.Lys1104AsnfsTer27
ENST00000649781.1:c.3312del ENSP00000497203.1:p.Lys1104AsnfsTer27
ENST00000003084.10:c.3495del ENSP00000003084.6:p.Lys1165AsnfsTer27
ENST00000426809.5:c.3405del ENSP00000389119.1:p.Lys1135AsnfsTer27
ENST00000468795.1:c.320del
NM_000492.3:c.3495del , LRG_663t1:c.3495del NP_000483.3:p.Lys1165AsnfsTer27
XM_011515751.1:c.3585del XP_011514053.1:p.Lys1195AsnfsTer27
XM_011515752.1:c.3585del XP_011514054.1:p.Lys1195AsnfsTer27
XM_011515753.1:c.3252del XP_011514055.1:p.Lys1084AsnfsTer27
XM_011515754.1:c.3252del XP_011514056.1:p.Lys1084AsnfsTer27
NM_000492.4:c.3495del MANE Select NP_000483.3:p.Lys1165AsnfsTer27