Canonical Allele Identifier: CA1737394560
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592211A= , CM000669.2:g.117592211A= GRCh38
NC_000007.13:g.117232265A= , CM000669.1:g.117232265A= GRCh37
NC_000007.12:g.117019501A= NCBI36
NG_016465.4:g.131428A= , LRG_663:g.131428A=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2044A= ENSP00000497673.2:p.Thr682=
ENST00000647978.2:c.*1758A= ENSP00000497658.1:n.*1758A=
ENST00000649781.2:c.1861A= ENSP00000497203.1:p.Thr621=
ENST00000685018.2:c.2044A= ENSP00000510194.2:p.Thr682=
ENST00000687278.2:c.2044A= ENSP00000509593.2:p.Thr682=
ENST00000699585.1:c.2044A= ENSP00000514456.1:p.Thr682=
ENST00000699598.1:c.2044A= ENSP00000514467.1:p.Thr682=
ENST00000699599.1:c.2044A= ENSP00000514468.1:p.Thr682=
ENST00000699600.1:c.2044A= ENSP00000514469.1:p.Thr682=
ENST00000699601.1:c.*344A= ENSP00000514470.1:n.*344A=
ENST00000699602.1:c.2044A= ENSP00000514471.1:p.Thr682=
ENST00000699604.1:c.*1868A= ENSP00000514472.1:n.*1868A=
ENST00000699605.1:c.1618A= ENSP00000514473.1:p.Thr540=
ENST00000003084.11:c.2044A= MANE Select ENSP00000003084.6:p.Thr682=
ENST00000647978.1:c.*1758A= ENSP00000497658.1:n.*1758A=
ENST00000648260.1:c.1402-10615A= ENSP00000497957.1:n.1402-10615A=
ENST00000649406.1:c.1861A= ENSP00000497965.1:p.Thr621=
ENST00000649781.1:c.1861A= ENSP00000497203.1:p.Thr621=
ENST00000003084.10:c.2044A= ENSP00000003084.6:p.Thr682=
ENST00000426809.5:c.1954A= ENSP00000389119.1:p.Thr652=
NM_000492.3:c.2044A= , LRG_663t1:c.2044A= NP_000483.3:p.Thr682=
XM_011515751.1:c.2134A= XP_011514053.1:p.Thr712=
XM_011515752.1:c.2134A= XP_011514054.1:p.Thr712=
XM_011515753.1:c.1801A= XP_011514055.1:p.Thr601=
XM_011515754.1:c.1801A= XP_011514056.1:p.Thr601=
NM_000492.4:c.2044A= MANE Select NP_000483.3:p.Thr682=