Canonical Allele Identifier: CA1737387565

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611758T= , CM000669.2:g.117611758T=	GRCh38
NC_000007.13:g.117251812T= , CM000669.1:g.117251812T=	GRCh37
NC_000007.12:g.117039048T=	NCBI36
NG_016465.4:g.150975T= , LRG_663:g.150975T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3317T=	ENSP00000497673.2:p.Ile1106=
ENST00000647978.2:c.*3031T=	ENSP00000497658.1:n.*3031T=
ENST00000649781.2:c.3134T=	ENSP00000497203.1:p.Ile1045=
ENST00000685018.2:c.3317T=	ENSP00000510194.2:p.Ile1106=
ENST00000687278.2:c.3317T=	ENSP00000509593.2:p.Ile1106=
ENST00000699585.1:c.3317T=	ENSP00000514456.1:p.Ile1106=
ENST00000699598.1:c.3317T=	ENSP00000514467.1:p.Ile1106=
ENST00000699599.1:c.3317T=	ENSP00000514468.1:p.Ile1106=
ENST00000699600.1:c.3317T=	ENSP00000514469.1:p.Ile1106=
ENST00000699601.1:c.*1617T=	ENSP00000514470.1:n.*1617T=
ENST00000699602.1:c.3317T=	ENSP00000514471.1:p.Ile1106=
ENST00000699604.1:c.*3141T=	ENSP00000514472.1:n.*3141T=
ENST00000699605.1:c.2891T=	ENSP00000514473.1:p.Ile964=
ENST00000685018.1:c.65T=	ENSP00000510194.1:p.Ile22=
ENST00000687278.1:c.908T=	ENSP00000509593.1:p.Ile303=
ENST00000003084.11:c.3317T= MANE Select	ENSP00000003084.6:p.Ile1106=
ENST00000647720.1:c.967T=
ENST00000648260.1:c.2099T=	ENSP00000497957.1:p.Ile700=
ENST00000649406.1:c.3134T=	ENSP00000497965.1:p.Ile1045=
ENST00000649781.1:c.3134T=	ENSP00000497203.1:p.Ile1045=
ENST00000003084.10:c.3317T=	ENSP00000003084.6:p.Ile1106=
ENST00000426809.5:c.3227T=	ENSP00000389119.1:p.Ile1076=
ENST00000468795.1:c.142T=
NM_000492.3:c.3317T= , LRG_663t1:c.3317T=	NP_000483.3:p.Ile1106=
XM_011515751.1:c.3407T=	XP_011514053.1:p.Ile1136=
XM_011515752.1:c.3407T=	XP_011514054.1:p.Ile1136=
XM_011515753.1:c.3074T=	XP_011514055.1:p.Ile1025=
XM_011515754.1:c.3074T=	XP_011514056.1:p.Ile1025=
NM_000492.4:c.3317T= MANE Select	NP_000483.3:p.Ile1106=