Canonical Allele Identifier: CA260254
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 35886
ClinVar RCV Id: RCV000029541
dbSNP Id: rs193922528

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117666945T>C , CM000669.2:g.117666945T>C GRCh38
NC_000007.13:g.117306999T>C , CM000669.1:g.117306999T>C GRCh37
NC_000007.12:g.117094235T>C NCBI36
NG_016465.4:g.206162T>C , LRG_663:g.206162T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*489T>C ENSP00000497673.2:n.*489T>C
ENST00000647978.2:c.*3994T>C ENSP00000497658.1:n.*3994T>C
ENST00000649781.2:c.4097T>C ENSP00000497203.1:p.Ile1366Thr
ENST00000685018.2:c.*493T>C ENSP00000510194.2:n.*493T>C
ENST00000687278.2:c.*896-657T>C ENSP00000509593.2:n.*896-657T>C
ENST00000699585.1:c.*749T>C ENSP00000514456.1:n.*749T>C
ENST00000699598.1:c.4273T>C ENSP00000514467.1:p.Ser1425Pro
ENST00000699599.1:c.*493T>C ENSP00000514468.1:n.*493T>C
ENST00000699600.1:c.*904-657T>C ENSP00000514469.1:n.*904-657T>C
ENST00000699601.1:c.*2655T>C ENSP00000514470.1:n.*2655T>C
ENST00000699602.1:c.4274T>C ENSP00000514471.1:p.Ile1425Thr
ENST00000699604.1:c.*4104T>C ENSP00000514472.1:n.*4104T>C
ENST00000699605.1:c.3854T>C ENSP00000514473.1:p.Ile1285Thr
ENST00000699606.1:n.3791T>C
ENST00000685018.1:c.1144T>C ENSP00000510194.1:n.1144T>C
ENST00000687278.1:c.2030-657T>C ENSP00000509593.1:n.2030-657T>C
ENST00000689011.1:c.1122T>C
ENST00000003084.11:c.4280T>C MANE Select ENSP00000003084.6:p.Ile1427Thr
ENST00000647720.1:c.1730T>C
ENST00000649781.1:c.4097T>C ENSP00000497203.1:p.Ile1366Thr
ENST00000003084.10:c.4280T>C ENSP00000003084.6:p.Ile1427Thr
ENST00000426809.5:c.4190T>C ENSP00000389119.1:p.Ile1397Thr
ENST00000600166.1:c.368+1381T>C
NM_000492.3:c.4280T>C , LRG_663t1:c.4280T>C NP_000483.3:p.Ile1427Thr
XM_011515751.1:c.4370T>C XP_011514053.1:p.Ile1457Thr
XM_011515753.1:c.4037T>C XP_011514055.1:p.Ile1346Thr
XM_011515754.1:c.4037T>C XP_011514056.1:p.Ile1346Thr
NM_000492.4:c.4280T>C MANE Select NP_000483.3:p.Ile1427Thr