Canonical Allele Identifier: CA326817
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1451980
ClinVar RCV Id: RCV001993398
dbSNP Id: rs397508376

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592602dup , CM000669.2:g.117592602dup GRCh38
NC_000007.13:g.117232656dup , CM000669.1:g.117232656dup GRCh37
NC_000007.12:g.117019892dup NCBI36
NG_016465.4:g.131819dup , LRG_663:g.131819dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2435dup ENSP00000497673.2:p.Leu812PhefsTer11
ENST00000647978.2:c.*2149dup ENSP00000497658.1:n.*2149dup
ENST00000649781.2:c.2252dup ENSP00000497203.1:p.Leu751PhefsTer11
ENST00000685018.2:c.2435dup ENSP00000510194.2:p.Leu812PhefsTer11
ENST00000687278.2:c.2435dup ENSP00000509593.2:p.Leu812PhefsTer11
ENST00000699585.1:c.2435dup ENSP00000514456.1:p.Leu812PhefsTer11
ENST00000699598.1:c.2435dup ENSP00000514467.1:p.Leu812PhefsTer11
ENST00000699599.1:c.2435dup ENSP00000514468.1:p.Leu812PhefsTer11
ENST00000699600.1:c.2435dup ENSP00000514469.1:p.Leu812PhefsTer11
ENST00000699601.1:c.*735dup ENSP00000514470.1:n.*735dup
ENST00000699602.1:c.2435dup ENSP00000514471.1:p.Leu812PhefsTer11
ENST00000699604.1:c.*2259dup ENSP00000514472.1:n.*2259dup
ENST00000699605.1:c.2009dup ENSP00000514473.1:p.Leu670PhefsTer11
ENST00000687278.1:c.26dup ENSP00000509593.1:p.Leu9PhefsTer11
ENST00000003084.11:c.2435dup MANE Select ENSP00000003084.6:p.Leu812PhefsTer11
ENST00000647720.1:c.85dup
ENST00000647978.1:c.*2149dup ENSP00000497658.1:n.*2149dup
ENST00000648260.1:c.1402-10224dup ENSP00000497957.1:n.1402-10224dup
ENST00000649406.1:c.2252dup ENSP00000497965.1:p.Leu751PhefsTer11
ENST00000649781.1:c.2252dup ENSP00000497203.1:p.Leu751PhefsTer11
ENST00000003084.10:c.2435dup ENSP00000003084.6:p.Leu812PhefsTer11
ENST00000426809.5:c.2345dup ENSP00000389119.1:p.Leu782PhefsTer11
NM_000492.3:c.2435dup , LRG_663t1:c.2435dup NP_000483.3:p.Leu812PhefsTer11
XM_011515751.1:c.2525dup XP_011514053.1:p.Leu842PhefsTer11
XM_011515752.1:c.2525dup XP_011514054.1:p.Leu842PhefsTer11
XM_011515753.1:c.2192dup XP_011514055.1:p.Leu731PhefsTer11
XM_011515754.1:c.2192dup XP_011514056.1:p.Leu731PhefsTer11
NM_000492.4:c.2435dup MANE Select NP_000483.3:p.Leu812PhefsTer11