Canonical Allele Identifier: CA1737398705
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627712C= , CM000669.2:g.117627712C= GRCh38
NC_000007.13:g.117267766C= , CM000669.1:g.117267766C= GRCh37
NC_000007.12:g.117055002C= NCBI36
NG_016465.4:g.166929C= , LRG_663:g.166929C=

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.3659C= MANE Select NP_000483.3:p.Thr1220=
ENST00000003084.11:c.3659C= MANE Select ENSP00000003084.6:p.Thr1220=
NM_000492.3:c.3659C= , LRG_663t1:c.3659C= NP_000483.3:p.Thr1220=
ENST00000003084.10:c.3659C= ENSP00000003084.6:p.Thr1220=
ENST00000426809.5:c.3569C= ENSP00000389119.1:p.Thr1190=
ENST00000468795.1:c.484C=
ENST00000647720.1:c.1167+142C=
ENST00000647720.2:c.3517+142C= ENSP00000497673.2:n.3517+142C=
ENST00000647978.2:c.*3373C= ENSP00000497658.1:n.*3373C=
ENST00000648260.1:c.2441C= ENSP00000497957.1:p.Thr814=
ENST00000649406.1:c.3476C= ENSP00000497965.1:p.Thr1159=
ENST00000649781.1:c.3476C= ENSP00000497203.1:p.Thr1159=
ENST00000649781.2:c.3476C= ENSP00000497203.1:p.Thr1159=
ENST00000685018.1:c.407C= ENSP00000510194.1:p.Thr136=
ENST00000685018.2:c.3659C= ENSP00000510194.2:p.Thr1220=
ENST00000687278.1:c.1446C= ENSP00000509593.1:n.1446C=
ENST00000687278.2:c.*312C= ENSP00000509593.2:n.*312C=
ENST00000689011.1:c.241C=
ENST00000699585.1:c.3517+142C= ENSP00000514456.1:n.3517+142C=
ENST00000699598.1:c.3659C= ENSP00000514467.1:p.Thr1220=
ENST00000699599.1:c.3659C= ENSP00000514468.1:p.Thr1220=
ENST00000699600.1:c.*320C= ENSP00000514469.1:n.*320C=
ENST00000699601.1:c.*2034C= ENSP00000514470.1:n.*2034C=
ENST00000699602.1:c.3653C= ENSP00000514471.1:p.Thr1218=
ENST00000699604.1:c.*3483C= ENSP00000514472.1:n.*3483C=
ENST00000699605.1:c.3233C= ENSP00000514473.1:p.Thr1078=
XM_011515751.1:c.3749C= XP_011514053.1:p.Thr1250=
XM_011515752.1:c.3749C= XP_011514054.1:p.Thr1250=
XM_011515753.1:c.3416C= XP_011514055.1:p.Thr1139=
XM_011515754.1:c.3416C= XP_011514056.1:p.Thr1139=