Canonical Allele Identifier: CA1737385002

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610599A= , CM000669.2:g.117610599A=	GRCh38
NC_000007.13:g.117250653A= , CM000669.1:g.117250653A=	GRCh37
NC_000007.12:g.117037889A=	NCBI36
NG_016465.4:g.149816A= , LRG_663:g.149816A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3069A=	ENSP00000497673.2:p.Ile1023=
ENST00000647978.2:c.*2783A=	ENSP00000497658.1:n.*2783A=
ENST00000649781.2:c.2886A=	ENSP00000497203.1:p.Ile962=
ENST00000685018.2:c.3069A=	ENSP00000510194.2:p.Ile1023=
ENST00000687278.2:c.3069A=	ENSP00000509593.2:p.Ile1023=
ENST00000699585.1:c.3069A=	ENSP00000514456.1:p.Ile1023=
ENST00000699598.1:c.3069A=	ENSP00000514467.1:p.Ile1023=
ENST00000699599.1:c.3069A=	ENSP00000514468.1:p.Ile1023=
ENST00000699600.1:c.3069A=	ENSP00000514469.1:p.Ile1023=
ENST00000699601.1:c.*1369A=	ENSP00000514470.1:n.*1369A=
ENST00000699602.1:c.3069A=	ENSP00000514471.1:p.Ile1023=
ENST00000699604.1:c.*2893A=	ENSP00000514472.1:n.*2893A=
ENST00000699605.1:c.2643A=	ENSP00000514473.1:p.Ile881=
ENST00000687278.1:c.660A=	ENSP00000509593.1:p.Ile220=
ENST00000003084.11:c.3069A= MANE Select	ENSP00000003084.6:p.Ile1023=
ENST00000647720.1:c.719A=
ENST00000648260.1:c.1851A=	ENSP00000497957.1:p.Ile617=
ENST00000649406.1:c.2886A=	ENSP00000497965.1:p.Ile962=
ENST00000649781.1:c.2886A=	ENSP00000497203.1:p.Ile962=
ENST00000003084.10:c.3069A=	ENSP00000003084.6:p.Ile1023=
ENST00000426809.5:c.2979A=	ENSP00000389119.1:p.Ile993=
NM_000492.3:c.3069A= , LRG_663t1:c.3069A=	NP_000483.3:p.Ile1023=
XM_011515751.1:c.3159A=	XP_011514053.1:p.Ile1053=
XM_011515752.1:c.3159A=	XP_011514054.1:p.Ile1053=
XM_011515753.1:c.2826A=	XP_011514055.1:p.Ile942=
XM_011515754.1:c.2826A=	XP_011514056.1:p.Ile942=
NM_000492.4:c.3069A= MANE Select	NP_000483.3:p.Ile1023=