Canonical Allele Identifier: CA457231085

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666928G>C , CM000669.2:g.117666928G>C	GRCh38
NC_000007.13:g.117306982G>C , CM000669.1:g.117306982G>C	GRCh37
NC_000007.12:g.117094218G>C	NCBI36
NG_016465.4:g.206145G>C , LRG_663:g.206145G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4263G>C MANE Select	NP_000483.3:p.Val1421=
ENST00000003084.11:c.4263G>C MANE Select	ENSP00000003084.6:p.Val1421=
NM_000492.3:c.4263G>C , LRG_663t1:c.4263G>C	NP_000483.3:p.Val1421=
ENST00000003084.10:c.4263G>C	ENSP00000003084.6:p.Val1421=
ENST00000426809.5:c.4173G>C	ENSP00000389119.1:p.Val1391=
ENST00000600166.1:c.368+1364G>C
ENST00000647720.1:c.1713G>C
ENST00000647720.2:c.*472G>C	ENSP00000497673.2:n.*472G>C
ENST00000647978.2:c.*3977G>C	ENSP00000497658.1:n.*3977G>C
ENST00000649781.1:c.4080G>C	ENSP00000497203.1:p.Val1360=
ENST00000649781.2:c.4080G>C	ENSP00000497203.1:p.Val1360=
ENST00000685018.1:c.1127G>C	ENSP00000510194.1:n.1127G>C
ENST00000685018.2:c.*476G>C	ENSP00000510194.2:n.*476G>C
ENST00000687278.1:c.2030-674G>C	ENSP00000509593.1:n.2030-674G>C
ENST00000687278.2:c.*896-674G>C	ENSP00000509593.2:n.*896-674G>C
ENST00000689011.1:c.1105G>C
ENST00000699585.1:c.*732G>C	ENSP00000514456.1:n.*732G>C
ENST00000699598.1:c.4256G>C	ENSP00000514467.1:p.Cys1419Ser
ENST00000699599.1:c.*476G>C	ENSP00000514468.1:n.*476G>C
ENST00000699600.1:c.*904-674G>C	ENSP00000514469.1:n.*904-674G>C
ENST00000699601.1:c.*2638G>C	ENSP00000514470.1:n.*2638G>C
ENST00000699602.1:c.4257G>C	ENSP00000514471.1:p.Val1419=
ENST00000699604.1:c.*4087G>C	ENSP00000514472.1:n.*4087G>C
ENST00000699605.1:c.3837G>C	ENSP00000514473.1:p.Val1279=
ENST00000699606.1:n.3774G>C
XM_011515751.1:c.4353G>C	XP_011514053.1:p.Val1451=
XM_011515753.1:c.4020G>C	XP_011514055.1:p.Val1340=
XM_011515754.1:c.4020G>C	XP_011514056.1:p.Val1340=