Canonical Allele Identifier: CA368993538
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 994117
dbSNP Id: rs748284173

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614668T>G , CM000669.2:g.117614668T>G GRCh38
NC_000007.13:g.117254722T>G , CM000669.1:g.117254722T>G GRCh37
NC_000007.12:g.117041958T>G NCBI36
NG_016465.4:g.153885T>G , LRG_663:g.153885T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3423T>G ENSP00000497673.2:p.Ser1141Arg
ENST00000647978.2:c.*3137T>G ENSP00000497658.1:n.*3137T>G
ENST00000649781.2:c.3240T>G ENSP00000497203.1:p.Ser1080Arg
ENST00000685018.2:c.3423T>G ENSP00000510194.2:p.Ser1141Arg
ENST00000687278.2:c.3423T>G ENSP00000509593.2:p.Ser1141Arg
ENST00000699585.1:c.3423T>G ENSP00000514456.1:p.Ser1141Arg
ENST00000699598.1:c.3423T>G ENSP00000514467.1:p.Ser1141Arg
ENST00000699599.1:c.3423T>G ENSP00000514468.1:p.Ser1141Arg
ENST00000699600.1:c.3423T>G ENSP00000514469.1:p.Ser1141Arg
ENST00000699601.1:c.*1798T>G ENSP00000514470.1:n.*1798T>G
ENST00000699602.1:c.3417T>G ENSP00000514471.1:p.Ser1139Arg
ENST00000699604.1:c.*3247T>G ENSP00000514472.1:n.*3247T>G
ENST00000699605.1:c.2997T>G ENSP00000514473.1:p.Ser999Arg
ENST00000685018.1:c.171T>G ENSP00000510194.1:p.Ser57Arg
ENST00000687278.1:c.1014T>G ENSP00000509593.1:p.Ser338Arg
ENST00000689011.1:c.5T>G
ENST00000003084.11:c.3423T>G MANE Select ENSP00000003084.6:p.Ser1141Arg
ENST00000647720.1:c.1073T>G
ENST00000648260.1:c.2205T>G ENSP00000497957.1:p.Ser735Arg
ENST00000649406.1:c.3240T>G ENSP00000497965.1:p.Ser1080Arg
ENST00000649781.1:c.3240T>G ENSP00000497203.1:p.Ser1080Arg
ENST00000003084.10:c.3423T>G ENSP00000003084.6:p.Ser1141Arg
ENST00000426809.5:c.3333T>G ENSP00000389119.1:p.Ser1111Arg
ENST00000468795.1:c.248T>G
NM_000492.3:c.3423T>G , LRG_663t1:c.3423T>G NP_000483.3:p.Ser1141Arg
XM_011515751.1:c.3513T>G XP_011514053.1:p.Ser1171Arg
XM_011515752.1:c.3513T>G XP_011514054.1:p.Ser1171Arg
XM_011515753.1:c.3180T>G XP_011514055.1:p.Ser1060Arg
XM_011515754.1:c.3180T>G XP_011514056.1:p.Ser1060Arg
NM_000492.4:c.3423T>G MANE Select NP_000483.3:p.Ser1141Arg