Canonical Allele Identifier: CA327456
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53923
dbSNP Id: rs397508699

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117665547G>A , CM000669.2:g.117665547G>A GRCh38
NC_000007.13:g.117305601G>A , CM000669.1:g.117305601G>A GRCh37
NC_000007.12:g.117092837G>A NCBI36
NG_016465.4:g.204764G>A , LRG_663:g.204764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*434G>A ENSP00000497673.2:n.*434G>A
ENST00000647978.2:c.*3939G>A ENSP00000497658.1:n.*3939G>A
ENST00000649781.2:c.4042G>A ENSP00000497203.1:p.Glu1348Lys
ENST00000685018.2:c.*438G>A ENSP00000510194.2:n.*438G>A
ENST00000687278.2:c.*878G>A ENSP00000509593.2:n.*878G>A
ENST00000699585.1:c.*434G>A ENSP00000514456.1:n.*434G>A
ENST00000699598.1:c.4225G>A ENSP00000514467.1:p.Glu1409Lys
ENST00000699599.1:c.*438G>A ENSP00000514468.1:n.*438G>A
ENST00000699600.1:c.*886G>A ENSP00000514469.1:n.*886G>A
ENST00000699601.1:c.*2600G>A ENSP00000514470.1:n.*2600G>A
ENST00000699602.1:c.4219G>A ENSP00000514471.1:p.Glu1407Lys
ENST00000699604.1:c.*4049G>A ENSP00000514472.1:n.*4049G>A
ENST00000699605.1:c.3799G>A ENSP00000514473.1:p.Glu1267Lys
ENST00000699606.1:n.2393G>A
ENST00000685018.1:c.1089G>A ENSP00000510194.1:n.1089G>A
ENST00000687278.1:c.2012G>A ENSP00000509593.1:n.2012G>A
ENST00000689011.1:c.807G>A
ENST00000003084.11:c.4225G>A MANE Select ENSP00000003084.6:p.Glu1409Lys
ENST00000647720.1:c.1675G>A
ENST00000649781.1:c.4042G>A ENSP00000497203.1:p.Glu1348Lys
ENST00000003084.10:c.4225G>A ENSP00000003084.6:p.Glu1409Lys
ENST00000426809.5:c.4135G>A ENSP00000389119.1:p.Glu1379Lys
ENST00000600166.1:c.351G>A
NM_000492.3:c.4225G>A , LRG_663t1:c.4225G>A NP_000483.3:p.Glu1409Lys
XM_011515751.1:c.4315G>A XP_011514053.1:p.Glu1439Lys
XM_011515752.1:c.4315G>A XP_011514054.1:p.Glu1439Lys
XM_011515753.1:c.3982G>A XP_011514055.1:p.Glu1328Lys
XM_011515754.1:c.3982G>A XP_011514056.1:p.Glu1328Lys
NM_000492.4:c.4225G>A MANE Select NP_000483.3:p.Glu1409Lys