Canonical Allele Identifier: CA1737390033

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587742A= , CM000669.2:g.117587742A=	GRCh38
NC_000007.13:g.117227796A= , CM000669.1:g.117227796A=	GRCh37
NC_000007.12:g.117015032A=	NCBI36
NG_016465.4:g.126959A= , LRG_663:g.126959A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1588A=	ENSP00000497673.2:p.Ile530=
ENST00000647978.2:c.*1302A=	ENSP00000497658.1:n.*1302A=
ENST00000649781.2:c.1405A=	ENSP00000497203.1:p.Ile469=
ENST00000685018.2:c.1588A=	ENSP00000510194.2:p.Ile530=
ENST00000687278.2:c.1588A=	ENSP00000509593.2:p.Ile530=
ENST00000699585.1:c.1588A=	ENSP00000514456.1:p.Ile530=
ENST00000699598.1:c.1588A=	ENSP00000514467.1:p.Ile530=
ENST00000699599.1:c.1588A=	ENSP00000514468.1:p.Ile530=
ENST00000699600.1:c.1588A=	ENSP00000514469.1:p.Ile530=
ENST00000699601.1:c.1588A=	ENSP00000514470.1:p.Ile530=
ENST00000699602.1:c.1588A=	ENSP00000514471.1:p.Ile530=
ENST00000699604.1:c.*1412A=	ENSP00000514472.1:n.*1412A=
ENST00000699605.1:c.1162A=	ENSP00000514473.1:p.Ile388=
ENST00000003084.11:c.1588A= MANE Select	ENSP00000003084.6:p.Ile530=
ENST00000647978.1:c.*1302A=	ENSP00000497658.1:n.*1302A=
ENST00000648260.1:c.1402-15084A=	ENSP00000497957.1:n.1402-15084A=
ENST00000649406.1:c.1405A=	ENSP00000497965.1:p.Ile469=
ENST00000649781.1:c.1405A=	ENSP00000497203.1:p.Ile469=
ENST00000003084.10:c.1588A=	ENSP00000003084.6:p.Ile530=
ENST00000426809.5:c.1498A=	ENSP00000389119.1:p.Ile500=
ENST00000472848.1:n.141A=
NM_000492.3:c.1588A= , LRG_663t1:c.1588A=	NP_000483.3:p.Ile530=
XM_011515751.1:c.1678A=	XP_011514053.1:p.Ile560=
XM_011515752.1:c.1678A=	XP_011514054.1:p.Ile560=
XM_011515753.1:c.1345A=	XP_011514055.1:p.Ile449=
XM_011515754.1:c.1345A=	XP_011514056.1:p.Ile449=
NM_000492.4:c.1588A= MANE Select	NP_000483.3:p.Ile530=