Canonical Allele Identifier: CA327058
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53660
dbSNP Id: rs397508505

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610669_117610670del , CM000669.2:g.117610669_117610670del GRCh38
NC_000007.13:g.117250723_117250724del , CM000669.1:g.117250723_117250724del GRCh37
NC_000007.12:g.117037959_117037960del NCBI36
NG_016465.4:g.149886_149887del , LRG_663:g.149886_149887del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3139_3139+1del
ENST00000647978.2:c.*2853_*2853+1del
ENST00000649781.2:c.2956_2956+1del
ENST00000685018.2:c.3139_3139+1del
ENST00000687278.2:c.3139_3139+1del
ENST00000699585.1:c.3139_3139+1del
ENST00000699598.1:c.3139_3139+1del
ENST00000699599.1:c.3139_3139+1del
ENST00000699600.1:c.3139_3139+1del
ENST00000699601.1:c.*1439_*1439+1del
ENST00000699602.1:c.3139_3139+1del
ENST00000699604.1:c.*2963_*2963+1del
ENST00000699605.1:c.2713_2713+1del
ENST00000687278.1:c.730_730+1del
ENST00000003084.11:c.3139_3139+1del
ENST00000647720.1:c.789_789+1del
ENST00000648260.1:c.1921_1921+1del
ENST00000649406.1:c.2956_2956+1del
ENST00000649781.1:c.2956_2956+1del
ENST00000003084.10:c.3139_3139+1del
ENST00000426809.5:c.3049_3049+1del
NM_000492.3:c.3139_3139+1del , LRG_663t1:c.3139_3139+1del
XM_011515751.1:c.3229_3229+1del
XM_011515752.1:c.3229_3229+1del
XM_011515753.1:c.2896_2896+1del
XM_011515754.1:c.2896_2896+1del
NM_000492.4:c.3139_3139+1del