Canonical Allele Identifier: CA1737384854

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610566A= , CM000669.2:g.117610566A=	GRCh38
NC_000007.13:g.117250620A= , CM000669.1:g.117250620A=	GRCh37
NC_000007.12:g.117037856A=	NCBI36
NG_016465.4:g.149783A= , LRG_663:g.149783A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3036A=	ENSP00000497673.2:p.Gln1012=
ENST00000647978.2:c.*2750A=	ENSP00000497658.1:n.*2750A=
ENST00000649781.2:c.2853A=	ENSP00000497203.1:p.Gln951=
ENST00000685018.2:c.3036A=	ENSP00000510194.2:p.Gln1012=
ENST00000687278.2:c.3036A=	ENSP00000509593.2:p.Gln1012=
ENST00000699585.1:c.3036A=	ENSP00000514456.1:p.Gln1012=
ENST00000699598.1:c.3036A=	ENSP00000514467.1:p.Gln1012=
ENST00000699599.1:c.3036A=	ENSP00000514468.1:p.Gln1012=
ENST00000699600.1:c.3036A=	ENSP00000514469.1:p.Gln1012=
ENST00000699601.1:c.*1336A=	ENSP00000514470.1:n.*1336A=
ENST00000699602.1:c.3036A=	ENSP00000514471.1:p.Gln1012=
ENST00000699604.1:c.*2860A=	ENSP00000514472.1:n.*2860A=
ENST00000699605.1:c.2610A=	ENSP00000514473.1:p.Gln870=
ENST00000687278.1:c.627A=	ENSP00000509593.1:p.Gln209=
ENST00000003084.11:c.3036A= MANE Select	ENSP00000003084.6:p.Gln1012=
ENST00000647720.1:c.686A=
ENST00000648260.1:c.1818A=	ENSP00000497957.1:p.Gln606=
ENST00000649406.1:c.2853A=	ENSP00000497965.1:p.Gln951=
ENST00000649781.1:c.2853A=	ENSP00000497203.1:p.Gln951=
ENST00000003084.10:c.3036A=	ENSP00000003084.6:p.Gln1012=
ENST00000426809.5:c.2946A=	ENSP00000389119.1:p.Gln982=
NM_000492.3:c.3036A= , LRG_663t1:c.3036A=	NP_000483.3:p.Gln1012=
XM_011515751.1:c.3126A=	XP_011514053.1:p.Gln1042=
XM_011515752.1:c.3126A=	XP_011514054.1:p.Gln1042=
XM_011515753.1:c.2793A=	XP_011514055.1:p.Gln931=
XM_011515754.1:c.2793A=	XP_011514056.1:p.Gln931=
NM_000492.4:c.3036A= MANE Select	NP_000483.3:p.Gln1012=