Canonical Allele Identifier: CA4451132
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1784789
ClinVar RCV Id: RCV002419818
dbSNP Id: rs757333389

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592200C>T , CM000669.2:g.117592200C>T GRCh38
NC_000007.13:g.117232254C>T , CM000669.1:g.117232254C>T GRCh37
NC_000007.12:g.117019490C>T NCBI36
NG_016465.4:g.131417C>T , LRG_663:g.131417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2033C>T ENSP00000497673.2:p.Ser678Phe
ENST00000647978.2:c.*1747C>T ENSP00000497658.1:n.*1747C>T
ENST00000649781.2:c.1850C>T ENSP00000497203.1:p.Ser617Phe
ENST00000685018.2:c.2033C>T ENSP00000510194.2:p.Ser678Phe
ENST00000687278.2:c.2033C>T ENSP00000509593.2:p.Ser678Phe
ENST00000699585.1:c.2033C>T ENSP00000514456.1:p.Ser678Phe
ENST00000699598.1:c.2033C>T ENSP00000514467.1:p.Ser678Phe
ENST00000699599.1:c.2033C>T ENSP00000514468.1:p.Ser678Phe
ENST00000699600.1:c.2033C>T ENSP00000514469.1:p.Ser678Phe
ENST00000699601.1:c.*333C>T ENSP00000514470.1:n.*333C>T
ENST00000699602.1:c.2033C>T ENSP00000514471.1:p.Ser678Phe
ENST00000699604.1:c.*1857C>T ENSP00000514472.1:n.*1857C>T
ENST00000699605.1:c.1607C>T ENSP00000514473.1:p.Ser536Phe
ENST00000003084.11:c.2033C>T MANE Select ENSP00000003084.6:p.Ser678Phe
ENST00000647978.1:c.*1747C>T ENSP00000497658.1:n.*1747C>T
ENST00000648260.1:c.1402-10626C>T ENSP00000497957.1:n.1402-10626C>T
ENST00000649406.1:c.1850C>T ENSP00000497965.1:p.Ser617Phe
ENST00000649781.1:c.1850C>T ENSP00000497203.1:p.Ser617Phe
ENST00000003084.10:c.2033C>T ENSP00000003084.6:p.Ser678Phe
ENST00000426809.5:c.1943C>T ENSP00000389119.1:p.Ser648Phe
NM_000492.3:c.2033C>T , LRG_663t1:c.2033C>T NP_000483.3:p.Ser678Phe
XM_011515751.1:c.2123C>T XP_011514053.1:p.Ser708Phe
XM_011515752.1:c.2123C>T XP_011514054.1:p.Ser708Phe
XM_011515753.1:c.1790C>T XP_011514055.1:p.Ser597Phe
XM_011515754.1:c.1790C>T XP_011514056.1:p.Ser597Phe
NM_000492.4:c.2033C>T MANE Select NP_000483.3:p.Ser678Phe