Canonical Allele Identifier: CA326728

Gene: CFTR

Linked Data

• ClinVar Variation Id: 439062
• ClinVar RCV Id: RCV000508007 ; RCV002420276
• dbSNP Id: rs397508330
• gnomAD v2: 7-117232233-TAGA-T
• gnomAD v4: 7-117592179-TAGA-T
• MyVariant Identifiers: chr7:g.117232236_117232238del (hg19) ; chr7:g.117232234_117232236del (hg19) ; chr7:g.117592182_117592184del (hg38) ; chr7:g.117592180_117592182del (hg38)
• PubMed: PMID:9254864 ; PMID:20797923 ; PMID:26437683

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592182_117592184del , CM000669.2:g.117592182_117592184del	GRCh38
NC_000007.13:g.117232236_117232238del , CM000669.1:g.117232236_117232238del	GRCh37
NC_000007.12:g.117019472_117019474del	NCBI36
NG_016465.4:g.131399_131401del , LRG_663:g.131399_131401del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2015_2017del	ENSP00000497673.2:p.Glu672del
ENST00000647978.2:c.*1729_*1731del	ENSP00000497658.1:n.*1729_*1731del
ENST00000649781.2:c.1832_1834del	ENSP00000497203.1:p.Glu611del
ENST00000685018.2:c.2015_2017del	ENSP00000510194.2:p.Glu672del
ENST00000687278.2:c.2015_2017del	ENSP00000509593.2:p.Glu672del
ENST00000699585.1:c.2015_2017del	ENSP00000514456.1:p.Glu672del
ENST00000699598.1:c.2015_2017del	ENSP00000514467.1:p.Glu672del
ENST00000699599.1:c.2015_2017del	ENSP00000514468.1:p.Glu672del
ENST00000699600.1:c.2015_2017del	ENSP00000514469.1:p.Glu672del
ENST00000699601.1:c.*315_*317del	ENSP00000514470.1:n.*315_*317del
ENST00000699602.1:c.2015_2017del	ENSP00000514471.1:p.Glu672del
ENST00000699604.1:c.*1839_*1841del	ENSP00000514472.1:n.*1839_*1841del
ENST00000699605.1:c.1589_1591del	ENSP00000514473.1:p.Glu530del
ENST00000003084.11:c.2015_2017del MANE Select	ENSP00000003084.6:p.Glu672del
ENST00000647978.1:c.*1729_*1731del	ENSP00000497658.1:n.*1729_*1731del
ENST00000648260.1:c.1402-10644_1402-10642del	ENSP00000497957.1:n.1402-10644_1402-10642del
ENST00000649406.1:c.1832_1834del	ENSP00000497965.1:p.Glu611del
ENST00000649781.1:c.1832_1834del	ENSP00000497203.1:p.Glu611del
ENST00000003084.10:c.2015_2017del	ENSP00000003084.6:p.Glu672del
ENST00000426809.5:c.1925_1927del	ENSP00000389119.1:p.Glu642del
NM_000492.3:c.2015_2017del , LRG_663t1:c.2015_2017del	NP_000483.3:p.Glu672del
XM_011515751.1:c.2105_2107del	XP_011514053.1:p.Glu702del
XM_011515752.1:c.2105_2107del	XP_011514054.1:p.Glu702del
XM_011515753.1:c.1772_1774del	XP_011514055.1:p.Glu591del
XM_011515754.1:c.1772_1774del	XP_011514056.1:p.Glu591del
NM_000492.4:c.2015_2017del MANE Select	NP_000483.3:p.Glu672del