Canonical Allele Identifier: CA1737398614

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627547A= , CM000669.2:g.117627547A=	GRCh38
NC_000007.13:g.117267601A= , CM000669.1:g.117267601A=	GRCh37
NC_000007.12:g.117054837A=	NCBI36
NG_016465.4:g.166764A= , LRG_663:g.166764A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3494A=	ENSP00000497673.2:p.Lys1165=
ENST00000647978.2:c.*3208A=	ENSP00000497658.1:n.*3208A=
ENST00000649781.2:c.3311A=	ENSP00000497203.1:p.Lys1104=
ENST00000685018.2:c.3494A=	ENSP00000510194.2:p.Lys1165=
ENST00000687278.2:c.*147A=	ENSP00000509593.2:n.*147A=
ENST00000699585.1:c.3494A=	ENSP00000514456.1:p.Lys1165=
ENST00000699598.1:c.3494A=	ENSP00000514467.1:p.Lys1165=
ENST00000699599.1:c.3494A=	ENSP00000514468.1:p.Lys1165=
ENST00000699600.1:c.*155A=	ENSP00000514469.1:n.*155A=
ENST00000699601.1:c.*1869A=	ENSP00000514470.1:n.*1869A=
ENST00000699602.1:c.3488A=	ENSP00000514471.1:p.Lys1163=
ENST00000699604.1:c.*3318A=	ENSP00000514472.1:n.*3318A=
ENST00000699605.1:c.3068A=	ENSP00000514473.1:p.Lys1023=
ENST00000685018.1:c.242A=	ENSP00000510194.1:p.Lys81=
ENST00000687278.1:c.1281A=	ENSP00000509593.1:n.1281A=
ENST00000689011.1:c.76A=
ENST00000003084.11:c.3494A= MANE Select	ENSP00000003084.6:p.Lys1165=
ENST00000647720.1:c.1144A=
ENST00000648260.1:c.2276A=	ENSP00000497957.1:p.Lys759=
ENST00000649406.1:c.3311A=	ENSP00000497965.1:p.Lys1104=
ENST00000649781.1:c.3311A=	ENSP00000497203.1:p.Lys1104=
ENST00000003084.10:c.3494A=	ENSP00000003084.6:p.Lys1165=
ENST00000426809.5:c.3404A=	ENSP00000389119.1:p.Lys1135=
ENST00000468795.1:c.319A=
NM_000492.3:c.3494A= , LRG_663t1:c.3494A=	NP_000483.3:p.Lys1165=
XM_011515751.1:c.3584A=	XP_011514053.1:p.Lys1195=
XM_011515752.1:c.3584A=	XP_011514054.1:p.Lys1195=
XM_011515753.1:c.3251A=	XP_011514055.1:p.Lys1084=
XM_011515754.1:c.3251A=	XP_011514056.1:p.Lys1084=
NM_000492.4:c.3494A= MANE Select	NP_000483.3:p.Lys1165=