Canonical Allele Identifier: CA4451621
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 558463
dbSNP Id: rs755028771

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664788G>T , CM000669.2:g.117664788G>T GRCh38
NC_000007.13:g.117304842G>T , CM000669.1:g.117304842G>T GRCh37
NC_000007.12:g.117092078G>T NCBI36
NG_016465.4:g.204005G>T , LRG_663:g.204005G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*273G>T ENSP00000497673.2:n.*273G>T
ENST00000647978.2:c.*3778G>T ENSP00000497658.1:n.*3778G>T
ENST00000649781.2:c.3881G>T ENSP00000497203.1:p.Cys1294Phe
ENST00000685018.2:c.*277G>T ENSP00000510194.2:n.*277G>T
ENST00000687278.2:c.*717G>T ENSP00000509593.2:n.*717G>T
ENST00000699585.1:c.*273G>T ENSP00000514456.1:n.*273G>T
ENST00000699598.1:c.4064G>T ENSP00000514467.1:p.Cys1355Phe
ENST00000699599.1:c.*277G>T ENSP00000514468.1:n.*277G>T
ENST00000699600.1:c.*725G>T ENSP00000514469.1:n.*725G>T
ENST00000699601.1:c.*2439G>T ENSP00000514470.1:n.*2439G>T
ENST00000699602.1:c.4058G>T ENSP00000514471.1:p.Cys1353Phe
ENST00000699604.1:c.*3888G>T ENSP00000514472.1:n.*3888G>T
ENST00000699605.1:c.3638G>T ENSP00000514473.1:p.Cys1213Phe
ENST00000699606.1:n.2232G>T
ENST00000685018.1:c.928G>T ENSP00000510194.1:n.928G>T
ENST00000687278.1:c.1851G>T ENSP00000509593.1:n.1851G>T
ENST00000689011.1:c.646G>T
ENST00000003084.11:c.4064G>T MANE Select ENSP00000003084.6:p.Cys1355Phe
ENST00000647720.1:c.1514G>T
ENST00000649781.1:c.3881G>T ENSP00000497203.1:p.Cys1294Phe
ENST00000003084.10:c.4064G>T ENSP00000003084.6:p.Cys1355Phe
ENST00000426809.5:c.3974G>T ENSP00000389119.1:p.Cys1325Phe
ENST00000600166.1:c.190G>T
NM_000492.3:c.4064G>T , LRG_663t1:c.4064G>T NP_000483.3:p.Cys1355Phe
XM_011515751.1:c.4154G>T XP_011514053.1:p.Cys1385Phe
XM_011515752.1:c.4154G>T XP_011514054.1:p.Cys1385Phe
XM_011515753.1:c.3821G>T XP_011514055.1:p.Cys1274Phe
XM_011515754.1:c.3821G>T XP_011514056.1:p.Cys1274Phe
NM_000492.4:c.4064G>T MANE Select NP_000483.3:p.Cys1355Phe