Canonical Allele Identifier: CA1737387758
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611794C= , CM000669.2:g.117611794C= GRCh38
NC_000007.13:g.117251848C= , CM000669.1:g.117251848C= GRCh37
NC_000007.12:g.117039084C= NCBI36
NG_016465.4:g.151011C= , LRG_663:g.151011C=

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.3353C= MANE Select NP_000483.3:p.Ser1118=
ENST00000003084.11:c.3353C= MANE Select ENSP00000003084.6:p.Ser1118=
NM_000492.3:c.3353C= , LRG_663t1:c.3353C= NP_000483.3:p.Ser1118=
ENST00000003084.10:c.3353C= ENSP00000003084.6:p.Ser1118=
ENST00000426809.5:c.3263C= ENSP00000389119.1:p.Ser1088=
ENST00000468795.1:c.178C=
ENST00000647720.1:c.1003C=
ENST00000647720.2:c.3353C= ENSP00000497673.2:p.Ser1118=
ENST00000647978.2:c.*3067C= ENSP00000497658.1:n.*3067C=
ENST00000648260.1:c.2135C= ENSP00000497957.1:p.Ser712=
ENST00000649406.1:c.3170C= ENSP00000497965.1:p.Ser1057=
ENST00000649781.1:c.3170C= ENSP00000497203.1:p.Ser1057=
ENST00000649781.2:c.3170C= ENSP00000497203.1:p.Ser1057=
ENST00000685018.1:c.101C= ENSP00000510194.1:p.Ser34=
ENST00000685018.2:c.3353C= ENSP00000510194.2:p.Ser1118=
ENST00000687278.1:c.944C= ENSP00000509593.1:p.Ser315=
ENST00000687278.2:c.3353C= ENSP00000509593.2:p.Ser1118=
ENST00000699585.1:c.3353C= ENSP00000514456.1:p.Ser1118=
ENST00000699598.1:c.3353C= ENSP00000514467.1:p.Ser1118=
ENST00000699599.1:c.3353C= ENSP00000514468.1:p.Ser1118=
ENST00000699600.1:c.3353C= ENSP00000514469.1:p.Ser1118=
ENST00000699601.1:c.*1653C= ENSP00000514470.1:n.*1653C=
ENST00000699602.1:c.3353C= ENSP00000514471.1:p.Ser1118=
ENST00000699604.1:c.*3177C= ENSP00000514472.1:n.*3177C=
ENST00000699605.1:c.2927C= ENSP00000514473.1:p.Ser976=
XM_011515751.1:c.3443C= XP_011514053.1:p.Ser1148=
XM_011515752.1:c.3443C= XP_011514054.1:p.Ser1148=
XM_011515753.1:c.3110C= XP_011514055.1:p.Ser1037=
XM_011515754.1:c.3110C= XP_011514056.1:p.Ser1037=