Canonical Allele Identifier: CA368983679
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2567870
ClinVar RCV Id: RCV003283383

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117665527A>G , CM000669.2:g.117665527A>G GRCh38
NC_000007.13:g.117305581A>G , CM000669.1:g.117305581A>G GRCh37
NC_000007.12:g.117092817A>G NCBI36
NG_016465.4:g.204744A>G , LRG_663:g.204744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*414A>G ENSP00000497673.2:n.*414A>G
ENST00000647978.2:c.*3919A>G ENSP00000497658.1:n.*3919A>G
ENST00000649781.2:c.4022A>G ENSP00000497203.1:p.His1341Arg
ENST00000685018.2:c.*418A>G ENSP00000510194.2:n.*418A>G
ENST00000687278.2:c.*858A>G ENSP00000509593.2:n.*858A>G
ENST00000699585.1:c.*414A>G ENSP00000514456.1:n.*414A>G
ENST00000699598.1:c.4205A>G ENSP00000514467.1:p.His1402Arg
ENST00000699599.1:c.*418A>G ENSP00000514468.1:n.*418A>G
ENST00000699600.1:c.*866A>G ENSP00000514469.1:n.*866A>G
ENST00000699601.1:c.*2580A>G ENSP00000514470.1:n.*2580A>G
ENST00000699602.1:c.4199A>G ENSP00000514471.1:p.His1400Arg
ENST00000699604.1:c.*4029A>G ENSP00000514472.1:n.*4029A>G
ENST00000699605.1:c.3779A>G ENSP00000514473.1:p.His1260Arg
ENST00000699606.1:n.2373A>G
ENST00000685018.1:c.1069A>G ENSP00000510194.1:n.1069A>G
ENST00000687278.1:c.1992A>G ENSP00000509593.1:n.1992A>G
ENST00000689011.1:c.787A>G
ENST00000003084.11:c.4205A>G MANE Select ENSP00000003084.6:p.His1402Arg
ENST00000647720.1:c.1655A>G
ENST00000649781.1:c.4022A>G ENSP00000497203.1:p.His1341Arg
ENST00000003084.10:c.4205A>G ENSP00000003084.6:p.His1402Arg
ENST00000426809.5:c.4115A>G ENSP00000389119.1:p.His1372Arg
ENST00000600166.1:c.331A>G
NM_000492.3:c.4205A>G , LRG_663t1:c.4205A>G NP_000483.3:p.His1402Arg
XM_011515751.1:c.4295A>G XP_011514053.1:p.His1432Arg
XM_011515752.1:c.4295A>G XP_011514054.1:p.His1432Arg
XM_011515753.1:c.3962A>G XP_011514055.1:p.His1321Arg
XM_011515754.1:c.3962A>G XP_011514056.1:p.His1321Arg
NM_000492.4:c.4205A>G MANE Select NP_000483.3:p.His1402Arg