Canonical Allele Identifier: CA1737398724
Community Standard Title: NM_000492.4(CFTR):c.3700A= (p.Ile1234=)
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627753A= , CM000669.2:g.117627753A= GRCh38
NC_000007.13:g.117267807A= , CM000669.1:g.117267807A= GRCh37
NC_000007.12:g.117055043A= NCBI36
NG_016465.4:g.166970A= , LRG_663:g.166970A=

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.3700A= MANE Select NP_000483.3:p.Ile1234=
ENST00000003084.11:c.3700A= MANE Select ENSP00000003084.6:p.Ile1234=
NM_000492.3:c.3700A= , LRG_663t1:c.3700A= NP_000483.3:p.Ile1234=
ENST00000003084.10:c.3700A= ENSP00000003084.6:p.Ile1234=
ENST00000426809.5:c.3610A= ENSP00000389119.1:p.Ile1204=
ENST00000468795.1:c.525A=
ENST00000647720.1:c.1167+183A=
ENST00000647720.2:c.3517+183A= ENSP00000497673.2:n.3517+183A=
ENST00000647978.2:c.*3414A= ENSP00000497658.1:n.*3414A=
ENST00000648260.1:c.2482A= ENSP00000497957.1:p.Ile828=
ENST00000649406.1:c.3517A= ENSP00000497965.1:p.Ile1173=
ENST00000649781.1:c.3517A= ENSP00000497203.1:p.Ile1173=
ENST00000649781.2:c.3517A= ENSP00000497203.1:p.Ile1173=
ENST00000685018.1:c.448A= ENSP00000510194.1:p.Ile150=
ENST00000685018.2:c.3700A= ENSP00000510194.2:p.Ile1234=
ENST00000687278.1:c.1487A= ENSP00000509593.1:n.1487A=
ENST00000687278.2:c.*353A= ENSP00000509593.2:n.*353A=
ENST00000689011.1:c.282A=
ENST00000699585.1:c.3517+183A= ENSP00000514456.1:n.3517+183A=
ENST00000699598.1:c.3700A= ENSP00000514467.1:p.Ile1234=
ENST00000699599.1:c.3700A= ENSP00000514468.1:p.Ile1234=
ENST00000699600.1:c.*361A= ENSP00000514469.1:n.*361A=
ENST00000699601.1:c.*2075A= ENSP00000514470.1:n.*2075A=
ENST00000699602.1:c.3694A= ENSP00000514471.1:p.Ile1232=
ENST00000699604.1:c.*3524A= ENSP00000514472.1:n.*3524A=
ENST00000699605.1:c.3274A= ENSP00000514473.1:p.Ile1092=
XM_011515751.1:c.3790A= XP_011514053.1:p.Ile1264=
XM_011515752.1:c.3790A= XP_011514054.1:p.Ile1264=
XM_011515753.1:c.3457A= XP_011514055.1:p.Ile1153=
XM_011515754.1:c.3457A= XP_011514056.1:p.Ile1153=