Canonical Allele Identifier: CA1737385248
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610661A= , CM000669.2:g.117610661A= GRCh38
NC_000007.13:g.117250715A= , CM000669.1:g.117250715A= GRCh37
NC_000007.12:g.117037951A= NCBI36
NG_016465.4:g.149878A= , LRG_663:g.149878A=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3131A= ENSP00000497673.2:p.Glu1044=
ENST00000647978.2:c.*2845A= ENSP00000497658.1:n.*2845A=
ENST00000649781.2:c.2948A= ENSP00000497203.1:p.Glu983=
ENST00000685018.2:c.3131A= ENSP00000510194.2:p.Glu1044=
ENST00000687278.2:c.3131A= ENSP00000509593.2:p.Glu1044=
ENST00000699585.1:c.3131A= ENSP00000514456.1:p.Glu1044=
ENST00000699598.1:c.3131A= ENSP00000514467.1:p.Glu1044=
ENST00000699599.1:c.3131A= ENSP00000514468.1:p.Glu1044=
ENST00000699600.1:c.3131A= ENSP00000514469.1:p.Glu1044=
ENST00000699601.1:c.*1431A= ENSP00000514470.1:n.*1431A=
ENST00000699602.1:c.3131A= ENSP00000514471.1:p.Glu1044=
ENST00000699604.1:c.*2955A= ENSP00000514472.1:n.*2955A=
ENST00000699605.1:c.2705A= ENSP00000514473.1:p.Glu902=
ENST00000687278.1:c.722A= ENSP00000509593.1:p.Glu241=
ENST00000003084.11:c.3131A= MANE Select ENSP00000003084.6:p.Glu1044=
ENST00000647720.1:c.781A=
ENST00000648260.1:c.1913A= ENSP00000497957.1:p.Glu638=
ENST00000649406.1:c.2948A= ENSP00000497965.1:p.Glu983=
ENST00000649781.1:c.2948A= ENSP00000497203.1:p.Glu983=
ENST00000003084.10:c.3131A= ENSP00000003084.6:p.Glu1044=
ENST00000426809.5:c.3041A= ENSP00000389119.1:p.Glu1014=
NM_000492.3:c.3131A= , LRG_663t1:c.3131A= NP_000483.3:p.Glu1044=
XM_011515751.1:c.3221A= XP_011514053.1:p.Glu1074=
XM_011515752.1:c.3221A= XP_011514054.1:p.Glu1074=
XM_011515753.1:c.2888A= XP_011514055.1:p.Glu963=
XM_011515754.1:c.2888A= XP_011514056.1:p.Glu963=
NM_000492.4:c.3131A= MANE Select NP_000483.3:p.Glu1044=