Canonical Allele Identifier: CA221039
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7163

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540178del , CM000669.2:g.117540178del GRCh38
NC_000007.13:g.117180232del , CM000669.1:g.117180232del GRCh37
NC_000007.12:g.116967468del NCBI36
NG_016465.4:g.79395del , LRG_663:g.79395del

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.948del MANE Select ENSP00000003084.6:p.Phe316LeufsTer12
ENST00000647978.1:c.*845del ENSP00000497658.1:p.=
ENST00000648260.1:c.948del ENSP00000497957.1:p.Phe316LeufsTer12
ENST00000649406.1:c.948del ENSP00000497965.1:p.Phe316LeufsTer12
ENST00000649781.1:n.948del ENSP00000497203.1:p.Phe316LeufsTer12
ENST00000673785.1:c.705del ENSP00000501235.1:p.Phe235LeufsTer12
ENST00000003084.10:c.948del ENSP00000003084.6:p.Phe316LeufsTer12
ENST00000426809.5:n.858del ENSP00000389119.1:p.Phe286LeufsTer12
NM_000492.3:c.948del , LRG_663t1:c.948del NP_000483.3:p.Phe316LeufsTer12
XM_011515751.1:c.1038del XP_011514053.1:p.Phe346LeufsTer12
XM_011515752.1:c.1038del XP_011514054.1:p.Phe346LeufsTer12
XM_011515753.1:c.705del XP_011514055.1:p.Phe235LeufsTer12
XM_011515754.1:c.705del XP_011514056.1:p.Phe235LeufsTer12
NM_000492.4:c.948del MANE Select NP_000483.3:p.Phe316LeufsTer12