Canonical Allele Identifier: CA325711
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 35881
dbSNP Id: rs193922525

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664770G>A , CM000669.2:g.117664770G>A GRCh38
NC_000007.13:g.117304824G>A , CM000669.1:g.117304824G>A GRCh37
NC_000007.12:g.117092060G>A NCBI36
NG_016465.4:g.203987G>A , LRG_663:g.203987G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*255G>A ENSP00000497673.2:n.*255G>A
ENST00000647978.2:c.*3760G>A ENSP00000497658.1:n.*3760G>A
ENST00000649781.2:c.3863G>A ENSP00000497203.1:p.Gly1288Asp
ENST00000685018.2:c.*259G>A ENSP00000510194.2:n.*259G>A
ENST00000687278.2:c.*699G>A ENSP00000509593.2:n.*699G>A
ENST00000699585.1:c.*255G>A ENSP00000514456.1:n.*255G>A
ENST00000699598.1:c.4046G>A ENSP00000514467.1:p.Gly1349Asp
ENST00000699599.1:c.*259G>A ENSP00000514468.1:n.*259G>A
ENST00000699600.1:c.*707G>A ENSP00000514469.1:n.*707G>A
ENST00000699601.1:c.*2421G>A ENSP00000514470.1:n.*2421G>A
ENST00000699602.1:c.4040G>A ENSP00000514471.1:p.Gly1347Asp
ENST00000699604.1:c.*3870G>A ENSP00000514472.1:n.*3870G>A
ENST00000699605.1:c.3620G>A ENSP00000514473.1:p.Gly1207Asp
ENST00000699606.1:n.2214G>A
ENST00000685018.1:c.910G>A ENSP00000510194.1:n.910G>A
ENST00000687278.1:c.1833G>A ENSP00000509593.1:n.1833G>A
ENST00000689011.1:c.628G>A
ENST00000003084.11:c.4046G>A MANE Select ENSP00000003084.6:p.Gly1349Asp
ENST00000647720.1:c.1496G>A
ENST00000649781.1:c.3863G>A ENSP00000497203.1:p.Gly1288Asp
ENST00000003084.10:c.4046G>A ENSP00000003084.6:p.Gly1349Asp
ENST00000426809.5:c.3956G>A ENSP00000389119.1:p.Gly1319Asp
ENST00000600166.1:c.172G>A
NM_000492.3:c.4046G>A , LRG_663t1:c.4046G>A NP_000483.3:p.Gly1349Asp
XM_011515751.1:c.4136G>A XP_011514053.1:p.Gly1379Asp
XM_011515752.1:c.4136G>A XP_011514054.1:p.Gly1379Asp
XM_011515753.1:c.3803G>A XP_011514055.1:p.Gly1268Asp
XM_011515754.1:c.3803G>A XP_011514056.1:p.Gly1268Asp
NM_000492.4:c.4046G>A MANE Select NP_000483.3:p.Gly1349Asp