Canonical Allele Identifier: CA1737387495
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611749T= , CM000669.2:g.117611749T= GRCh38
NC_000007.13:g.117251803T= , CM000669.1:g.117251803T= GRCh37
NC_000007.12:g.117039039T= NCBI36
NG_016465.4:g.150966T= , LRG_663:g.150966T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3308T= ENSP00000497673.2:p.Ile1103=
ENST00000647978.2:c.*3022T= ENSP00000497658.1:n.*3022T=
ENST00000649781.2:c.3125T= ENSP00000497203.1:p.Ile1042=
ENST00000685018.2:c.3308T= ENSP00000510194.2:p.Ile1103=
ENST00000687278.2:c.3308T= ENSP00000509593.2:p.Ile1103=
ENST00000699585.1:c.3308T= ENSP00000514456.1:p.Ile1103=
ENST00000699598.1:c.3308T= ENSP00000514467.1:p.Ile1103=
ENST00000699599.1:c.3308T= ENSP00000514468.1:p.Ile1103=
ENST00000699600.1:c.3308T= ENSP00000514469.1:p.Ile1103=
ENST00000699601.1:c.*1608T= ENSP00000514470.1:n.*1608T=
ENST00000699602.1:c.3308T= ENSP00000514471.1:p.Ile1103=
ENST00000699604.1:c.*3132T= ENSP00000514472.1:n.*3132T=
ENST00000699605.1:c.2882T= ENSP00000514473.1:p.Ile961=
ENST00000685018.1:c.56T= ENSP00000510194.1:p.Ile19=
ENST00000687278.1:c.899T= ENSP00000509593.1:p.Ile300=
ENST00000003084.11:c.3308T= MANE Select ENSP00000003084.6:p.Ile1103=
ENST00000647720.1:c.958T=
ENST00000648260.1:c.2090T= ENSP00000497957.1:p.Ile697=
ENST00000649406.1:c.3125T= ENSP00000497965.1:p.Ile1042=
ENST00000649781.1:c.3125T= ENSP00000497203.1:p.Ile1042=
ENST00000003084.10:c.3308T= ENSP00000003084.6:p.Ile1103=
ENST00000426809.5:c.3218T= ENSP00000389119.1:p.Ile1073=
ENST00000468795.1:c.133T=
NM_000492.3:c.3308T= , LRG_663t1:c.3308T= NP_000483.3:p.Ile1103=
XM_011515751.1:c.3398T= XP_011514053.1:p.Ile1133=
XM_011515752.1:c.3398T= XP_011514054.1:p.Ile1133=
XM_011515753.1:c.3065T= XP_011514055.1:p.Ile1022=
XM_011515754.1:c.3065T= XP_011514056.1:p.Ile1022=
NM_000492.4:c.3308T= MANE Select NP_000483.3:p.Ile1103=