Canonical Allele Identifier: CA1737411145
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652871A= , CM000669.2:g.117652871A= GRCh38
NC_000007.13:g.117292925A= , CM000669.1:g.117292925A= GRCh37
NC_000007.12:g.117080161A= NCBI36
NG_016465.4:g.192088A= , LRG_663:g.192088A=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*112A= ENSP00000497673.2:n.*112A=
ENST00000647978.2:c.*3617A= ENSP00000497658.1:n.*3617A=
ENST00000649781.2:c.3720A= ENSP00000497203.1:p.Arg1240=
ENST00000685018.2:c.*116A= ENSP00000510194.2:n.*116A=
ENST00000687278.2:c.*556A= ENSP00000509593.2:n.*556A=
ENST00000699585.1:c.*112A= ENSP00000514456.1:n.*112A=
ENST00000699598.1:c.3903A= ENSP00000514467.1:p.Arg1301=
ENST00000699599.1:c.*116A= ENSP00000514468.1:n.*116A=
ENST00000699600.1:c.*564A= ENSP00000514469.1:n.*564A=
ENST00000699601.1:c.*2278A= ENSP00000514470.1:n.*2278A=
ENST00000699602.1:c.3897A= ENSP00000514471.1:p.Arg1299=
ENST00000699604.1:c.*3727A= ENSP00000514472.1:n.*3727A=
ENST00000699605.1:c.3477A= ENSP00000514473.1:p.Arg1159=
ENST00000699606.1:n.2071A=
ENST00000685018.1:c.767A= ENSP00000510194.1:n.767A=
ENST00000687278.1:c.1690A= ENSP00000509593.1:n.1690A=
ENST00000689011.1:c.485A=
ENST00000003084.11:c.3903A= MANE Select ENSP00000003084.6:p.Arg1301=
ENST00000647720.1:c.1353A=
ENST00000649781.1:c.3720A= ENSP00000497203.1:p.Arg1240=
ENST00000003084.10:c.3903A= ENSP00000003084.6:p.Arg1301=
ENST00000426809.5:c.3813A= ENSP00000389119.1:p.Arg1271=
ENST00000600166.1:c.29A=
NM_000492.3:c.3903A= , LRG_663t1:c.3903A= NP_000483.3:p.Arg1301=
XM_011515751.1:c.3993A= XP_011514053.1:p.Arg1331=
XM_011515752.1:c.3993A= XP_011514054.1:p.Arg1331=
XM_011515753.1:c.3660A= XP_011514055.1:p.Arg1220=
XM_011515754.1:c.3660A= XP_011514056.1:p.Arg1220=
NM_000492.4:c.3903A= MANE Select NP_000483.3:p.Arg1301=