Canonical Allele Identifier: CA1737398672
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627651A= , CM000669.2:g.117627651A= GRCh38
NC_000007.13:g.117267705A= , CM000669.1:g.117267705A= GRCh37
NC_000007.12:g.117054941A= NCBI36
NG_016465.4:g.166868A= , LRG_663:g.166868A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+81A= ENSP00000497673.2:n.3517+81A=
ENST00000647978.2:c.*3312A= ENSP00000497658.1:n.*3312A=
ENST00000649781.2:c.3415A= ENSP00000497203.1:p.Lys1139=
ENST00000685018.2:c.3598A= ENSP00000510194.2:p.Lys1200=
ENST00000687278.2:c.*251A= ENSP00000509593.2:n.*251A=
ENST00000699585.1:c.3517+81A= ENSP00000514456.1:n.3517+81A=
ENST00000699598.1:c.3598A= ENSP00000514467.1:p.Lys1200=
ENST00000699599.1:c.3598A= ENSP00000514468.1:p.Lys1200=
ENST00000699600.1:c.*259A= ENSP00000514469.1:n.*259A=
ENST00000699601.1:c.*1973A= ENSP00000514470.1:n.*1973A=
ENST00000699602.1:c.3592A= ENSP00000514471.1:p.Lys1198=
ENST00000699604.1:c.*3422A= ENSP00000514472.1:n.*3422A=
ENST00000699605.1:c.3172A= ENSP00000514473.1:p.Lys1058=
ENST00000685018.1:c.346A= ENSP00000510194.1:p.Lys116=
ENST00000687278.1:c.1385A= ENSP00000509593.1:n.1385A=
ENST00000689011.1:c.180A=
ENST00000003084.11:c.3598A= MANE Select ENSP00000003084.6:p.Lys1200=
ENST00000647720.1:c.1167+81A=
ENST00000648260.1:c.2380A= ENSP00000497957.1:p.Lys794=
ENST00000649406.1:c.3415A= ENSP00000497965.1:p.Lys1139=
ENST00000649781.1:c.3415A= ENSP00000497203.1:p.Lys1139=
ENST00000003084.10:c.3598A= ENSP00000003084.6:p.Lys1200=
ENST00000426809.5:c.3508A= ENSP00000389119.1:p.Lys1170=
ENST00000468795.1:c.423A=
NM_000492.3:c.3598A= , LRG_663t1:c.3598A= NP_000483.3:p.Lys1200=
XM_011515751.1:c.3688A= XP_011514053.1:p.Lys1230=
XM_011515752.1:c.3688A= XP_011514054.1:p.Lys1230=
XM_011515753.1:c.3355A= XP_011514055.1:p.Lys1119=
XM_011515754.1:c.3355A= XP_011514056.1:p.Lys1119=
NM_000492.4:c.3598A= MANE Select NP_000483.3:p.Lys1200=