Canonical Allele Identifier: CA1737395576
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592586A= , CM000669.2:g.117592586A= GRCh38
NC_000007.13:g.117232640A= , CM000669.1:g.117232640A= GRCh37
NC_000007.12:g.117019876A= NCBI36
NG_016465.4:g.131803A= , LRG_663:g.131803A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2419A= ENSP00000497673.2:p.Ile807=
ENST00000647978.2:c.*2133A= ENSP00000497658.1:n.*2133A=
ENST00000649781.2:c.2236A= ENSP00000497203.1:p.Ile746=
ENST00000685018.2:c.2419A= ENSP00000510194.2:p.Ile807=
ENST00000687278.2:c.2419A= ENSP00000509593.2:p.Ile807=
ENST00000699585.1:c.2419A= ENSP00000514456.1:p.Ile807=
ENST00000699598.1:c.2419A= ENSP00000514467.1:p.Ile807=
ENST00000699599.1:c.2419A= ENSP00000514468.1:p.Ile807=
ENST00000699600.1:c.2419A= ENSP00000514469.1:p.Ile807=
ENST00000699601.1:c.*719A= ENSP00000514470.1:n.*719A=
ENST00000699602.1:c.2419A= ENSP00000514471.1:p.Ile807=
ENST00000699604.1:c.*2243A= ENSP00000514472.1:n.*2243A=
ENST00000699605.1:c.1993A= ENSP00000514473.1:p.Ile665=
ENST00000687278.1:c.10A= ENSP00000509593.1:p.Ile4=
ENST00000003084.11:c.2419A= MANE Select ENSP00000003084.6:p.Ile807=
ENST00000647720.1:c.69A=
ENST00000647978.1:c.*2133A= ENSP00000497658.1:n.*2133A=
ENST00000648260.1:c.1402-10240A= ENSP00000497957.1:n.1402-10240A=
ENST00000649406.1:c.2236A= ENSP00000497965.1:p.Ile746=
ENST00000649781.1:c.2236A= ENSP00000497203.1:p.Ile746=
ENST00000003084.10:c.2419A= ENSP00000003084.6:p.Ile807=
ENST00000426809.5:c.2329A= ENSP00000389119.1:p.Ile777=
NM_000492.3:c.2419A= , LRG_663t1:c.2419A= NP_000483.3:p.Ile807=
XM_011515751.1:c.2509A= XP_011514053.1:p.Ile837=
XM_011515752.1:c.2509A= XP_011514054.1:p.Ile837=
XM_011515753.1:c.2176A= XP_011514055.1:p.Ile726=
XM_011515754.1:c.2176A= XP_011514056.1:p.Ile726=
NM_000492.4:c.2419A= MANE Select NP_000483.3:p.Ile807=