Canonical Allele Identifier: CA1737392000

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614636A= , CM000669.2:g.117614636A=	GRCh38
NC_000007.13:g.117254690A= , CM000669.1:g.117254690A=	GRCh37
NC_000007.12:g.117041926A=	NCBI36
NG_016465.4:g.153853A= , LRG_663:g.153853A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3391A=	ENSP00000497673.2:p.Ile1131=
ENST00000647978.2:c.*3105A=	ENSP00000497658.1:n.*3105A=
ENST00000649781.2:c.3208A=	ENSP00000497203.1:p.Ile1070=
ENST00000685018.2:c.3391A=	ENSP00000510194.2:p.Ile1131=
ENST00000687278.2:c.3391A=	ENSP00000509593.2:p.Ile1131=
ENST00000699585.1:c.3391A=	ENSP00000514456.1:p.Ile1131=
ENST00000699598.1:c.3391A=	ENSP00000514467.1:p.Ile1131=
ENST00000699599.1:c.3391A=	ENSP00000514468.1:p.Ile1131=
ENST00000699600.1:c.3391A=	ENSP00000514469.1:p.Ile1131=
ENST00000699601.1:c.*1766A=	ENSP00000514470.1:n.*1766A=
ENST00000699602.1:c.3385A=	ENSP00000514471.1:p.Ile1129=
ENST00000699604.1:c.*3215A=	ENSP00000514472.1:n.*3215A=
ENST00000699605.1:c.2965A=	ENSP00000514473.1:p.Ile989=
ENST00000685018.1:c.139A=	ENSP00000510194.1:p.Ile47=
ENST00000687278.1:c.982A=	ENSP00000509593.1:p.Ile328=
ENST00000003084.11:c.3391A= MANE Select	ENSP00000003084.6:p.Ile1131=
ENST00000647720.1:c.1041A=
ENST00000648260.1:c.2173A=	ENSP00000497957.1:p.Ile725=
ENST00000649406.1:c.3208A=	ENSP00000497965.1:p.Ile1070=
ENST00000649781.1:c.3208A=	ENSP00000497203.1:p.Ile1070=
ENST00000003084.10:c.3391A=	ENSP00000003084.6:p.Ile1131=
ENST00000426809.5:c.3301A=	ENSP00000389119.1:p.Ile1101=
ENST00000468795.1:c.216A=
NM_000492.3:c.3391A= , LRG_663t1:c.3391A=	NP_000483.3:p.Ile1131=
XM_011515751.1:c.3481A=	XP_011514053.1:p.Ile1161=
XM_011515752.1:c.3481A=	XP_011514054.1:p.Ile1161=
XM_011515753.1:c.3148A=	XP_011514055.1:p.Ile1050=
XM_011515754.1:c.3148A=	XP_011514056.1:p.Ile1050=
NM_000492.4:c.3391A= MANE Select	NP_000483.3:p.Ile1131=