Canonical Allele Identifier: CA2580076327

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706009
• ClinVar RCV Id: RCV002284539

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627578_117627590del , CM000669.2:g.117627578_117627590del	GRCh38
NC_000007.13:g.117267632_117267644del , CM000669.1:g.117267632_117267644del	GRCh37
NC_000007.12:g.117054868_117054880del	NCBI36
NG_016465.4:g.166795_166807del , LRG_663:g.166795_166807del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+8_3517+20del	ENSP00000497673.2:n.3517+8_3517+20del
ENST00000647978.2:c.*3239_*3251del	ENSP00000497658.1:n.*3239_*3251del
ENST00000649781.2:c.3342_3354del	ENSP00000497203.1:p.Thr1115AsnfsTer12
ENST00000685018.2:c.3525_3537del	ENSP00000510194.2:p.Thr1176AsnfsTer12
ENST00000687278.2:c.*178_*190del	ENSP00000509593.2:n.*178_*190del
ENST00000699585.1:c.3517+8_3517+20del	ENSP00000514456.1:n.3517+8_3517+20del
ENST00000699598.1:c.3525_3537del	ENSP00000514467.1:p.Thr1176AsnfsTer12
ENST00000699599.1:c.3525_3537del	ENSP00000514468.1:p.Thr1176AsnfsTer12
ENST00000699600.1:c.*186_*198del	ENSP00000514469.1:n.*186_*198del
ENST00000699601.1:c.*1900_*1912del	ENSP00000514470.1:n.*1900_*1912del
ENST00000699602.1:c.3519_3531del	ENSP00000514471.1:p.Thr1174AsnfsTer12
ENST00000699604.1:c.*3349_*3361del	ENSP00000514472.1:n.*3349_*3361del
ENST00000699605.1:c.3099_3111del	ENSP00000514473.1:p.Thr1034AsnfsTer12
ENST00000685018.1:c.273_285del	ENSP00000510194.1:p.Thr92AsnfsTer12
ENST00000687278.1:c.1312_1324del	ENSP00000509593.1:n.1312_1324del
ENST00000689011.1:c.107_119del
ENST00000003084.11:c.3525_3537del MANE Select	ENSP00000003084.6:p.Thr1176AsnfsTer12
ENST00000647720.1:c.1167+8_1167+20del
ENST00000648260.1:c.2307_2319del	ENSP00000497957.1:p.Thr770AsnfsTer12
ENST00000649406.1:c.3342_3354del	ENSP00000497965.1:p.Thr1115AsnfsTer12
ENST00000649781.1:c.3342_3354del	ENSP00000497203.1:p.Thr1115AsnfsTer12
ENST00000003084.10:c.3525_3537del	ENSP00000003084.6:p.Thr1176AsnfsTer12
ENST00000426809.5:c.3435_3447del	ENSP00000389119.1:p.Thr1146AsnfsTer12
ENST00000468795.1:c.350_362del
NM_000492.3:c.3525_3537del , LRG_663t1:c.3525_3537del	NP_000483.3:p.Thr1176AsnfsTer12
XM_011515751.1:c.3615_3627del	XP_011514053.1:p.Thr1206AsnfsTer12
XM_011515752.1:c.3615_3627del	XP_011514054.1:p.Thr1206AsnfsTer12
XM_011515753.1:c.3282_3294del	XP_011514055.1:p.Thr1095AsnfsTer12
XM_011515754.1:c.3282_3294del	XP_011514056.1:p.Thr1095AsnfsTer12
NM_000492.4:c.3525_3537del MANE Select	NP_000483.3:p.Thr1176AsnfsTer12