Canonical Allele Identifier: CA340637
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7123
dbSNP Id: rs75549581

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587829G>A , CM000669.2:g.117587829G>A GRCh38
NC_000007.13:g.117227883G>A , CM000669.1:g.117227883G>A GRCh37
NC_000007.12:g.117015119G>A NCBI36
NG_016465.4:g.127046G>A , LRG_663:g.127046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1675G>A ENSP00000497673.2:p.Ala559Thr
ENST00000647978.2:c.*1389G>A ENSP00000497658.1:n.*1389G>A
ENST00000649781.2:c.1492G>A ENSP00000497203.1:p.Ala498Thr
ENST00000685018.2:c.1675G>A ENSP00000510194.2:p.Ala559Thr
ENST00000687278.2:c.1675G>A ENSP00000509593.2:p.Ala559Thr
ENST00000699585.1:c.1675G>A ENSP00000514456.1:p.Ala559Thr
ENST00000699598.1:c.1675G>A ENSP00000514467.1:p.Ala559Thr
ENST00000699599.1:c.1675G>A ENSP00000514468.1:p.Ala559Thr
ENST00000699600.1:c.1675G>A ENSP00000514469.1:p.Ala559Thr
ENST00000699601.1:c.1675G>A ENSP00000514470.1:p.Ala559Thr
ENST00000699602.1:c.1675G>A ENSP00000514471.1:p.Ala559Thr
ENST00000699604.1:c.*1499G>A ENSP00000514472.1:n.*1499G>A
ENST00000699605.1:c.1249G>A ENSP00000514473.1:p.Ala417Thr
ENST00000003084.11:c.1675G>A MANE Select ENSP00000003084.6:p.Ala559Thr
ENST00000647978.1:c.*1389G>A ENSP00000497658.1:n.*1389G>A
ENST00000648260.1:c.1402-14997G>A ENSP00000497957.1:n.1402-14997G>A
ENST00000649406.1:c.1492G>A ENSP00000497965.1:p.Ala498Thr
ENST00000649781.1:c.1492G>A ENSP00000497203.1:p.Ala498Thr
ENST00000003084.10:c.1675G>A ENSP00000003084.6:p.Ala559Thr
ENST00000426809.5:c.1585G>A ENSP00000389119.1:p.Ala529Thr
NM_000492.3:c.1675G>A , LRG_663t1:c.1675G>A NP_000483.3:p.Ala559Thr
XM_011515751.1:c.1765G>A XP_011514053.1:p.Ala589Thr
XM_011515752.1:c.1765G>A XP_011514054.1:p.Ala589Thr
XM_011515753.1:c.1432G>A XP_011514055.1:p.Ala478Thr
XM_011515754.1:c.1432G>A XP_011514056.1:p.Ala478Thr
NM_000492.4:c.1675G>A MANE Select NP_000483.3:p.Ala559Thr