Canonical Allele Identifier: CA326371
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53170
dbSNP Id: rs121908774

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540259del , CM000669.2:g.117540259del GRCh38
NC_000007.13:g.117180313del , CM000669.1:g.117180313del GRCh37
NC_000007.12:g.116967549del NCBI36
NG_016465.4:g.79476del , LRG_663:g.79476del

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1029del MANE Select ENSP00000003084.6:p.Cys343Ter
ENST00000647978.1:c.*926del ENSP00000497658.1:p.=
ENST00000648260.1:c.1029del ENSP00000497957.1:p.Cys343Ter
ENST00000649406.1:c.1029del ENSP00000497965.1:p.Cys343Ter
ENST00000649781.1:n.1029del ENSP00000497203.1:p.Cys343Ter
ENST00000673785.1:c.786del ENSP00000501235.1:p.Cys262Ter
ENST00000003084.10:c.1029del ENSP00000003084.6:p.Cys343Ter
ENST00000426809.5:n.939del ENSP00000389119.1:p.Cys313Ter
NM_000492.3:c.1029del , LRG_663t1:c.1029del NP_000483.3:p.Cys343Ter
XM_011515751.1:c.1119del XP_011514053.1:p.Cys373Ter
XM_011515752.1:c.1119del XP_011514054.1:p.Cys373Ter
XM_011515753.1:c.786del XP_011514055.1:p.Cys262Ter
XM_011515754.1:c.786del XP_011514056.1:p.Cys262Ter
NM_000492.4:c.1029del MANE Select NP_000483.3:p.Cys343Ter