Canonical Allele Identifier: CA1737395053
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592396G= , CM000669.2:g.117592396G= GRCh38
NC_000007.13:g.117232450G= , CM000669.1:g.117232450G= GRCh37
NC_000007.12:g.117019686G= NCBI36
NG_016465.4:g.131613G= , LRG_663:g.131613G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2229G= ENSP00000497673.2:p.Glu743=
ENST00000647978.2:c.*1943G= ENSP00000497658.1:n.*1943G=
ENST00000649781.2:c.2046G= ENSP00000497203.1:p.Glu682=
ENST00000685018.2:c.2229G= ENSP00000510194.2:p.Glu743=
ENST00000687278.2:c.2229G= ENSP00000509593.2:p.Glu743=
ENST00000699585.1:c.2229G= ENSP00000514456.1:p.Glu743=
ENST00000699598.1:c.2229G= ENSP00000514467.1:p.Glu743=
ENST00000699599.1:c.2229G= ENSP00000514468.1:p.Glu743=
ENST00000699600.1:c.2229G= ENSP00000514469.1:p.Glu743=
ENST00000699601.1:c.*529G= ENSP00000514470.1:n.*529G=
ENST00000699602.1:c.2229G= ENSP00000514471.1:p.Glu743=
ENST00000699604.1:c.*2053G= ENSP00000514472.1:n.*2053G=
ENST00000699605.1:c.1803G= ENSP00000514473.1:p.Glu601=
ENST00000003084.11:c.2229G= MANE Select ENSP00000003084.6:p.Glu743=
ENST00000647978.1:c.*1943G= ENSP00000497658.1:n.*1943G=
ENST00000648260.1:c.1402-10430G= ENSP00000497957.1:n.1402-10430G=
ENST00000649406.1:c.2046G= ENSP00000497965.1:p.Glu682=
ENST00000649781.1:c.2046G= ENSP00000497203.1:p.Glu682=
ENST00000003084.10:c.2229G= ENSP00000003084.6:p.Glu743=
ENST00000426809.5:c.2139G= ENSP00000389119.1:p.Glu713=
NM_000492.3:c.2229G= , LRG_663t1:c.2229G= NP_000483.3:p.Glu743=
XM_011515751.1:c.2319G= XP_011514053.1:p.Glu773=
XM_011515752.1:c.2319G= XP_011514054.1:p.Glu773=
XM_011515753.1:c.1986G= XP_011514055.1:p.Glu662=
XM_011515754.1:c.1986G= XP_011514056.1:p.Glu662=
NM_000492.4:c.2229G= MANE Select NP_000483.3:p.Glu743=