Canonical Allele Identifier: CA1737379717
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117606741T= , CM000669.2:g.117606741T= GRCh38
NC_000007.13:g.117246795T= , CM000669.1:g.117246795T= GRCh37
NC_000007.12:g.117034031T= NCBI36
NG_016465.4:g.145958T= , LRG_663:g.145958T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2976T= ENSP00000497673.2:p.Phe992=
ENST00000647978.2:c.*2690T= ENSP00000497658.1:n.*2690T=
ENST00000649781.2:c.2793T= ENSP00000497203.1:p.Phe931=
ENST00000685018.2:c.2976T= ENSP00000510194.2:p.Phe992=
ENST00000687278.2:c.2976T= ENSP00000509593.2:p.Phe992=
ENST00000699585.1:c.2976T= ENSP00000514456.1:p.Phe992=
ENST00000699598.1:c.2976T= ENSP00000514467.1:p.Phe992=
ENST00000699599.1:c.2976T= ENSP00000514468.1:p.Phe992=
ENST00000699600.1:c.2976T= ENSP00000514469.1:p.Phe992=
ENST00000699601.1:c.*1276T= ENSP00000514470.1:n.*1276T=
ENST00000699602.1:c.2976T= ENSP00000514471.1:p.Phe992=
ENST00000699604.1:c.*2800T= ENSP00000514472.1:n.*2800T=
ENST00000699605.1:c.2550T= ENSP00000514473.1:p.Phe850=
ENST00000687278.1:c.567T= ENSP00000509593.1:p.Phe189=
ENST00000003084.11:c.2976T= MANE Select ENSP00000003084.6:p.Phe992=
ENST00000647720.1:c.626T=
ENST00000648260.1:c.1758T= ENSP00000497957.1:p.Phe586=
ENST00000649406.1:c.2793T= ENSP00000497965.1:p.Phe931=
ENST00000649781.1:c.2793T= ENSP00000497203.1:p.Phe931=
ENST00000003084.10:c.2976T= ENSP00000003084.6:p.Phe992=
ENST00000426809.5:c.2886T= ENSP00000389119.1:p.Phe962=
NM_000492.3:c.2976T= , LRG_663t1:c.2976T= NP_000483.3:p.Phe992=
XM_011515751.1:c.3066T= XP_011514053.1:p.Phe1022=
XM_011515752.1:c.3066T= XP_011514054.1:p.Phe1022=
XM_011515753.1:c.2733T= XP_011514055.1:p.Phe911=
XM_011515754.1:c.2733T= XP_011514056.1:p.Phe911=
NM_000492.4:c.2976T= MANE Select NP_000483.3:p.Phe992=