Canonical Allele Identifier: CA1737395645

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592609A= , CM000669.2:g.117592609A=	GRCh38
NC_000007.13:g.117232663A= , CM000669.1:g.117232663A=	GRCh37
NC_000007.12:g.117019899A=	NCBI36
NG_016465.4:g.131826A= , LRG_663:g.131826A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2442A=	ENSP00000497673.2:p.Gln814=
ENST00000647978.2:c.*2156A=	ENSP00000497658.1:n.*2156A=
ENST00000649781.2:c.2259A=	ENSP00000497203.1:p.Gln753=
ENST00000685018.2:c.2442A=	ENSP00000510194.2:p.Gln814=
ENST00000687278.2:c.2442A=	ENSP00000509593.2:p.Gln814=
ENST00000699585.1:c.2442A=	ENSP00000514456.1:p.Gln814=
ENST00000699598.1:c.2442A=	ENSP00000514467.1:p.Gln814=
ENST00000699599.1:c.2442A=	ENSP00000514468.1:p.Gln814=
ENST00000699600.1:c.2442A=	ENSP00000514469.1:p.Gln814=
ENST00000699601.1:c.*742A=	ENSP00000514470.1:n.*742A=
ENST00000699602.1:c.2442A=	ENSP00000514471.1:p.Gln814=
ENST00000699604.1:c.*2266A=	ENSP00000514472.1:n.*2266A=
ENST00000699605.1:c.2016A=	ENSP00000514473.1:p.Gln672=
ENST00000687278.1:c.33A=	ENSP00000509593.1:p.Gln11=
ENST00000003084.11:c.2442A= MANE Select	ENSP00000003084.6:p.Gln814=
ENST00000647720.1:c.92A=
ENST00000647978.1:c.*2156A=	ENSP00000497658.1:n.*2156A=
ENST00000648260.1:c.1402-10217A=	ENSP00000497957.1:n.1402-10217A=
ENST00000649406.1:c.2259A=	ENSP00000497965.1:p.Gln753=
ENST00000649781.1:c.2259A=	ENSP00000497203.1:p.Gln753=
ENST00000003084.10:c.2442A=	ENSP00000003084.6:p.Gln814=
ENST00000426809.5:c.2352A=	ENSP00000389119.1:p.Gln784=
NM_000492.3:c.2442A= , LRG_663t1:c.2442A=	NP_000483.3:p.Gln814=
XM_011515751.1:c.2532A=	XP_011514053.1:p.Gln844=
XM_011515752.1:c.2532A=	XP_011514054.1:p.Gln844=
XM_011515753.1:c.2199A=	XP_011514055.1:p.Gln733=
XM_011515754.1:c.2199A=	XP_011514056.1:p.Gln733=
NM_000492.4:c.2442A= MANE Select	NP_000483.3:p.Gln814=