Canonical Allele Identifier: CA368981178
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1792049504

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592579A>C , CM000669.2:g.117592579A>C GRCh38
NC_000007.13:g.117232633A>C , CM000669.1:g.117232633A>C GRCh37
NC_000007.12:g.117019869A>C NCBI36
NG_016465.4:g.131796A>C , LRG_663:g.131796A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2412A>C ENSP00000497673.2:p.Glu804Asp
ENST00000647978.2:c.*2126A>C ENSP00000497658.1:n.*2126A>C
ENST00000649781.2:c.2229A>C ENSP00000497203.1:p.Glu743Asp
ENST00000685018.2:c.2412A>C ENSP00000510194.2:p.Glu804Asp
ENST00000687278.2:c.2412A>C ENSP00000509593.2:p.Glu804Asp
ENST00000699585.1:c.2412A>C ENSP00000514456.1:p.Glu804Asp
ENST00000699598.1:c.2412A>C ENSP00000514467.1:p.Glu804Asp
ENST00000699599.1:c.2412A>C ENSP00000514468.1:p.Glu804Asp
ENST00000699600.1:c.2412A>C ENSP00000514469.1:p.Glu804Asp
ENST00000699601.1:c.*712A>C ENSP00000514470.1:n.*712A>C
ENST00000699602.1:c.2412A>C ENSP00000514471.1:p.Glu804Asp
ENST00000699604.1:c.*2236A>C ENSP00000514472.1:n.*2236A>C
ENST00000699605.1:c.1986A>C ENSP00000514473.1:p.Glu662Asp
ENST00000687278.1:c.3A>C ENSP00000509593.1:p.Glu1Asp
ENST00000003084.11:c.2412A>C MANE Select ENSP00000003084.6:p.Glu804Asp
ENST00000647720.1:c.62A>C
ENST00000647978.1:c.*2126A>C ENSP00000497658.1:n.*2126A>C
ENST00000648260.1:c.1402-10247A>C ENSP00000497957.1:n.1402-10247A>C
ENST00000649406.1:c.2229A>C ENSP00000497965.1:p.Glu743Asp
ENST00000649781.1:c.2229A>C ENSP00000497203.1:p.Glu743Asp
ENST00000003084.10:c.2412A>C ENSP00000003084.6:p.Glu804Asp
ENST00000426809.5:c.2322A>C ENSP00000389119.1:p.Glu774Asp
NM_000492.3:c.2412A>C , LRG_663t1:c.2412A>C NP_000483.3:p.Glu804Asp
XM_011515751.1:c.2502A>C XP_011514053.1:p.Glu834Asp
XM_011515752.1:c.2502A>C XP_011514054.1:p.Glu834Asp
XM_011515753.1:c.2169A>C XP_011514055.1:p.Glu723Asp
XM_011515754.1:c.2169A>C XP_011514056.1:p.Glu723Asp
NM_000492.4:c.2412A>C MANE Select NP_000483.3:p.Glu804Asp