Canonical Allele Identifier: CA276111

Gene: CFTR

Linked Data

• ClinVar Variation Id: 209056
• ClinVar RCV Id: RCV000191001 ; RCV001833134 ; RCV002247617
• dbSNP Id: rs797045159
• gnomAD v4: 7-117642464-AG-A
• MyVariant Identifiers: chr7:g.117282521del (hg19) ; chr7:g.117642467del (hg38)
• PubMed: PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642467del , CM000669.2:g.117642467del	GRCh38
NC_000007.13:g.117282521del , CM000669.1:g.117282521del	GRCh37
NC_000007.12:g.117069757del	NCBI36
NG_016465.4:g.181684del , LRG_663:g.181684del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3547del	ENSP00000497673.2:p.Glu1183LysfsTer?
ENST00000647978.2:c.*3461del	ENSP00000497658.1:n.*3461del
ENST00000649781.2:c.3564del	ENSP00000497203.1:p.Lys1189ArgfsTer9
ENST00000685018.2:c.3747del	ENSP00000510194.2:p.Lys1250ArgfsTer9
ENST00000687278.2:c.*400del	ENSP00000509593.2:n.*400del
ENST00000699585.1:c.3547del	ENSP00000514456.1:p.Glu1183LysfsTer?
ENST00000699598.1:c.3747del	ENSP00000514467.1:p.Lys1250ArgfsTer9
ENST00000699599.1:c.3747del	ENSP00000514468.1:p.Lys1250ArgfsTer9
ENST00000699600.1:c.*408del	ENSP00000514469.1:n.*408del
ENST00000699601.1:c.*2122del	ENSP00000514470.1:n.*2122del
ENST00000699602.1:c.3741del	ENSP00000514471.1:p.Lys1248ArgfsTer9
ENST00000699604.1:c.*3571del	ENSP00000514472.1:n.*3571del
ENST00000699605.1:c.3321del	ENSP00000514473.1:p.Lys1108ArgfsTer9
ENST00000685018.1:c.495del	ENSP00000510194.1:p.Lys166ArgfsTer9
ENST00000687278.1:c.1534del	ENSP00000509593.1:n.1534del
ENST00000689011.1:c.329del
ENST00000003084.11:c.3747del MANE Select	ENSP00000003084.6:p.Lys1250ArgfsTer9
ENST00000647720.1:c.1197del
ENST00000649781.1:c.3564del	ENSP00000497203.1:p.Lys1189ArgfsTer9
ENST00000003084.10:c.3747del	ENSP00000003084.6:p.Lys1250ArgfsTer9
ENST00000426809.5:c.3657del	ENSP00000389119.1:p.Lys1220ArgfsTer9
NM_000492.3:c.3747del , LRG_663t1:c.3747del	NP_000483.3:p.Lys1250ArgfsTer9
XM_011515751.1:c.3837del	XP_011514053.1:p.Lys1280ArgfsTer9
XM_011515752.1:c.3837del	XP_011514054.1:p.Lys1280ArgfsTer9
XM_011515753.1:c.3504del	XP_011514055.1:p.Lys1169ArgfsTer9
XM_011515754.1:c.3504del	XP_011514056.1:p.Lys1169ArgfsTer9
NM_000492.4:c.3747del MANE Select	NP_000483.3:p.Lys1250ArgfsTer9