Canonical Allele Identifier: CA326718
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 38735
dbSNP Id: rs121908779

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592090_117592098delinsA , CM000669.2:g.117592090_117592098delinsA GRCh38
NC_000007.13:g.117232144_117232152delinsA , CM000669.1:g.117232144_117232152delinsA GRCh37
NC_000007.12:g.117019380_117019388delinsA NCBI36
NG_016465.4:g.131307_131315delinsA , LRG_663:g.131307_131315delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1923_1931delinsA ENSP00000497673.2:p.Ser641ArgfsTer5
ENST00000647978.2:c.*1637_*1645delinsA ENSP00000497658.1:n.*1637_*1645delinsA
ENST00000649781.2:c.1740_1748delinsA ENSP00000497203.1:p.Ser580ArgfsTer5
ENST00000685018.2:c.1923_1931delinsA ENSP00000510194.2:p.Ser641ArgfsTer5
ENST00000687278.2:c.1923_1931delinsA ENSP00000509593.2:p.Ser641ArgfsTer5
ENST00000699585.1:c.1923_1931delinsA ENSP00000514456.1:p.Ser641ArgfsTer5
ENST00000699598.1:c.1923_1931delinsA ENSP00000514467.1:p.Ser641ArgfsTer5
ENST00000699599.1:c.1923_1931delinsA ENSP00000514468.1:p.Ser641ArgfsTer5
ENST00000699600.1:c.1923_1931delinsA ENSP00000514469.1:p.Ser641ArgfsTer5
ENST00000699601.1:c.*223_*231delinsA ENSP00000514470.1:n.*223_*231delinsA
ENST00000699602.1:c.1923_1931delinsA ENSP00000514471.1:p.Ser641ArgfsTer5
ENST00000699604.1:c.*1747_*1755delinsA ENSP00000514472.1:n.*1747_*1755delinsA
ENST00000699605.1:c.1497_1505delinsA ENSP00000514473.1:p.Ser499ArgfsTer5
ENST00000003084.11:c.1923_1931delinsA MANE Select ENSP00000003084.6:p.Ser641ArgfsTer5
ENST00000647978.1:c.*1637_*1645delinsA ENSP00000497658.1:n.*1637_*1645delinsA
ENST00000648260.1:c.1402-10736_1402-10728delinsA ENSP00000497957.1:n.1402-10736_1402-10728...
ENST00000649406.1:c.1740_1748delinsA ENSP00000497965.1:p.Ser580ArgfsTer5
ENST00000649781.1:c.1740_1748delinsA ENSP00000497203.1:p.Ser580ArgfsTer5
ENST00000003084.10:c.1923_1931delinsA ENSP00000003084.6:p.Ser641ArgfsTer5
ENST00000426809.5:c.1833_1841delinsA ENSP00000389119.1:p.Ser611ArgfsTer5
NM_000492.3:c.1923_1931delinsA , LRG_663t1:c.1923_1931delinsA NP_000483.3:p.Ser641ArgfsTer5
XM_011515751.1:c.2013_2021delinsA XP_011514053.1:p.Ser671ArgfsTer5
XM_011515752.1:c.2013_2021delinsA XP_011514054.1:p.Ser671ArgfsTer5
XM_011515753.1:c.1680_1688delinsA XP_011514055.1:p.Ser560ArgfsTer5
XM_011515754.1:c.1680_1688delinsA XP_011514056.1:p.Ser560ArgfsTer5
NM_000492.4:c.1923_1931delinsA MANE Select NP_000483.3:p.Ser641ArgfsTer5