Canonical Allele Identifier: CA327418

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53898
• ClinVar RCV Id: RCV000577744 ; RCV003474599
• dbSNP Id: rs397508680
• gnomAD v4: 7-117665460-AC-A
• MyVariant Identifiers: chr7:g.117305515del (hg19) ; chr7:g.117665461del (hg38)
• PubMed: PMID:7515303

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665461del , CM000669.2:g.117665461del	GRCh38
NC_000007.13:g.117305515del , CM000669.1:g.117305515del	GRCh37
NC_000007.12:g.117092751del	NCBI36
NG_016465.4:g.204678del , LRG_663:g.204678del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*348del	ENSP00000497673.2:n.*348del
ENST00000647978.2:c.*3853del	ENSP00000497658.1:n.*3853del
ENST00000649781.2:c.3956del	ENSP00000497203.1:p.Thr1319AsnfsTer4
ENST00000685018.2:c.*352del	ENSP00000510194.2:n.*352del
ENST00000687278.2:c.*792del	ENSP00000509593.2:n.*792del
ENST00000699585.1:c.*348del	ENSP00000514456.1:n.*348del
ENST00000699598.1:c.4139del	ENSP00000514467.1:p.Thr1380AsnfsTer4
ENST00000699599.1:c.*352del	ENSP00000514468.1:n.*352del
ENST00000699600.1:c.*800del	ENSP00000514469.1:n.*800del
ENST00000699601.1:c.*2514del	ENSP00000514470.1:n.*2514del
ENST00000699602.1:c.4133del	ENSP00000514471.1:p.Thr1378AsnfsTer4
ENST00000699604.1:c.*3963del	ENSP00000514472.1:n.*3963del
ENST00000699605.1:c.3713del	ENSP00000514473.1:p.Thr1238AsnfsTer4
ENST00000699606.1:n.2307del
ENST00000685018.1:c.1003del	ENSP00000510194.1:n.1003del
ENST00000687278.1:c.1926del	ENSP00000509593.1:n.1926del
ENST00000689011.1:c.721del
ENST00000003084.11:c.4139del MANE Select	ENSP00000003084.6:p.Thr1380AsnfsTer4
ENST00000647720.1:c.1589del
ENST00000649781.1:c.3956del	ENSP00000497203.1:p.Thr1319AsnfsTer4
ENST00000003084.10:c.4139del	ENSP00000003084.6:p.Thr1380AsnfsTer4
ENST00000426809.5:c.4049del	ENSP00000389119.1:p.Thr1350AsnfsTer4
ENST00000600166.1:c.265del
NM_000492.3:c.4139del , LRG_663t1:c.4139del	NP_000483.3:p.Thr1380AsnfsTer4
XM_011515751.1:c.4229del	XP_011514053.1:p.Thr1410AsnfsTer4
XM_011515752.1:c.4229del	XP_011514054.1:p.Thr1410AsnfsTer4
XM_011515753.1:c.3896del	XP_011514055.1:p.Thr1299AsnfsTer4
XM_011515754.1:c.3896del	XP_011514056.1:p.Thr1299AsnfsTer4
NM_000492.4:c.4139del MANE Select	NP_000483.3:p.Thr1380AsnfsTer4