Canonical Allele Identifier: CA327144
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53717
ClinVar RCV Id: RCV000577320
dbSNP Id: rs397508540

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611756del , CM000669.2:g.117611756del GRCh38
NC_000007.13:g.117251810del , CM000669.1:g.117251810del GRCh37
NC_000007.12:g.117039046del NCBI36
NG_016465.4:g.150973del , LRG_663:g.150973del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3315del ENSP00000497673.2:p.Met1105IlefsTer16
ENST00000647978.2:c.*3029del ENSP00000497658.1:n.*3029del
ENST00000649781.2:c.3132del ENSP00000497203.1:p.Met1044IlefsTer16
ENST00000685018.2:c.3315del ENSP00000510194.2:p.Met1105IlefsTer16
ENST00000687278.2:c.3315del ENSP00000509593.2:p.Met1105IlefsTer16
ENST00000699585.1:c.3315del ENSP00000514456.1:p.Met1105IlefsTer16
ENST00000699598.1:c.3315del ENSP00000514467.1:p.Met1105IlefsTer16
ENST00000699599.1:c.3315del ENSP00000514468.1:p.Met1105IlefsTer16
ENST00000699600.1:c.3315del ENSP00000514469.1:p.Met1105IlefsTer16
ENST00000699601.1:c.*1615del ENSP00000514470.1:n.*1615del
ENST00000699602.1:c.3315del ENSP00000514471.1:p.Met1105IlefsTer16
ENST00000699604.1:c.*3139del ENSP00000514472.1:n.*3139del
ENST00000699605.1:c.2889del ENSP00000514473.1:p.Met963IlefsTer16
ENST00000685018.1:c.63del ENSP00000510194.1:p.Met21IlefsTer16
ENST00000687278.1:c.906del ENSP00000509593.1:p.Met302IlefsTer16
ENST00000003084.11:c.3315del MANE Select ENSP00000003084.6:p.Met1105IlefsTer16
ENST00000647720.1:c.965del
ENST00000648260.1:c.2097del ENSP00000497957.1:p.Met699IlefsTer16
ENST00000649406.1:c.3132del ENSP00000497965.1:p.Met1044IlefsTer16
ENST00000649781.1:c.3132del ENSP00000497203.1:p.Met1044IlefsTer16
ENST00000003084.10:c.3315del ENSP00000003084.6:p.Met1105IlefsTer16
ENST00000426809.5:c.3225del ENSP00000389119.1:p.Met1075IlefsTer16
ENST00000468795.1:c.140del
NM_000492.3:c.3315del , LRG_663t1:c.3315del NP_000483.3:p.Met1105IlefsTer16
XM_011515751.1:c.3405del XP_011514053.1:p.Met1135IlefsTer16
XM_011515752.1:c.3405del XP_011514054.1:p.Met1135IlefsTer16
XM_011515753.1:c.3072del XP_011514055.1:p.Met1024IlefsTer16
XM_011515754.1:c.3072del XP_011514056.1:p.Met1024IlefsTer16
NM_000492.4:c.3315del MANE Select NP_000483.3:p.Met1105IlefsTer16