Canonical Allele Identifier: CA1737392196

Gene: CFTR

Linked Data

• dbSNP Id: rs1792457738

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614682_117614683insACATATCACATTAAATTTACATTTCAATTTTA , CM000669.2:g.117614682_117614683insACATATCACATTAAATTTACATTTCAATTTTA	GRCh38
NC_000007.13:g.117254736_117254737insACATATCACATTAAATTTACATTTCAATTTTA , CM000669.1:g.117254736_117254737insACATATCACATTAAATTTACATTTCAATTTTA	GRCh37
NC_000007.12:g.117041972_117041973insACATATCACATTAAATTTACATTTCAATTTTA	NCBI36
NG_016465.4:g.153899_153900insACATATCACATTAAATTTACATTTCAATTTTA , LRG_663:g.153899_153900insACATATCACATTAAATTTACATTTCAATTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000497673.2:p.Val1147HisfsTer12
ENST00000647978.2:c.*3151_*3152insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000497658.1:n.*3151_*3152insACATATC...
ENST00000649781.2:c.3254_3255insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000497203.1:p.Val1086HisfsTer12
ENST00000685018.2:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000510194.2:p.Val1147HisfsTer12
ENST00000687278.2:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000509593.2:p.Val1147HisfsTer12
ENST00000699585.1:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514456.1:p.Val1147HisfsTer12
ENST00000699598.1:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514467.1:p.Val1147HisfsTer12
ENST00000699599.1:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514468.1:p.Val1147HisfsTer12
ENST00000699600.1:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514469.1:p.Val1147HisfsTer12
ENST00000699601.1:c.*1812_*1813insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514470.1:n.*1812_*1813insACATATC...
ENST00000699602.1:c.3431_3432insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514471.1:p.Val1145HisfsTer12
ENST00000699604.1:c.*3261_*3262insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514472.1:n.*3261_*3262insACATATC...
ENST00000699605.1:c.3011_3012insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000514473.1:p.Val1005HisfsTer12
ENST00000685018.1:c.185_186insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000510194.1:p.Val63HisfsTer12
ENST00000687278.1:c.1028_1029insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000509593.1:p.Val344HisfsTer12
ENST00000689011.1:c.19_20insACATATCACATTAAATTTACATTTCAATTTTA
ENST00000003084.11:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA MANE Select	ENSP00000003084.6:p.Val1147HisfsTer12
ENST00000647720.1:c.1087_1088insACATATCACATTAAATTTACATTTCAATTTTA
ENST00000648260.1:c.2219_2220insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000497957.1:p.Val741HisfsTer12
ENST00000649406.1:c.3254_3255insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000497965.1:p.Val1086HisfsTer12
ENST00000649781.1:c.3254_3255insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000497203.1:p.Val1086HisfsTer12
ENST00000003084.10:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000003084.6:p.Val1147HisfsTer12
ENST00000426809.5:c.3347_3348insACATATCACATTAAATTTACATTTCAATTTTA	ENSP00000389119.1:p.Val1117HisfsTer12
ENST00000468795.1:c.262_263insACATATCACATTAAATTTACATTTCAATTTTA
NM_000492.3:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA , LRG_663t1:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA	NP_000483.3:p.Val1147HisfsTer12
XM_011515751.1:c.3527_3528insACATATCACATTAAATTTACATTTCAATTTTA	XP_011514053.1:p.Val1177HisfsTer12
XM_011515752.1:c.3527_3528insACATATCACATTAAATTTACATTTCAATTTTA	XP_011514054.1:p.Val1177HisfsTer12
XM_011515753.1:c.3194_3195insACATATCACATTAAATTTACATTTCAATTTTA	XP_011514055.1:p.Val1066HisfsTer12
XM_011515754.1:c.3194_3195insACATATCACATTAAATTTACATTTCAATTTTA	XP_011514056.1:p.Val1066HisfsTer12
NM_000492.4:c.3437_3438insACATATCACATTAAATTTACATTTCAATTTTA MANE Select	NP_000483.3:p.Val1147HisfsTer12