Canonical Allele Identifier: CA327369

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53866
• ClinVar RCV Id: RCV000577015
• dbSNP Id: rs397508654
• MyVariant Identifiers: chr7:g.117304754del (hg19) ; chr7:g.117664700del (hg38)
• PubMed: PMID:9383031

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664700del , CM000669.2:g.117664700del	GRCh38
NC_000007.13:g.117304754del , CM000669.1:g.117304754del	GRCh37
NC_000007.12:g.117091990del	NCBI36
NG_016465.4:g.203917del , LRG_663:g.203917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*185del	ENSP00000497673.2:n.*185del
ENST00000647978.2:c.*3690del	ENSP00000497658.1:n.*3690del
ENST00000649781.2:c.3793del	ENSP00000497203.1:p.Ser1265LeufsTer2
ENST00000685018.2:c.*189del	ENSP00000510194.2:n.*189del
ENST00000687278.2:c.*629del	ENSP00000509593.2:n.*629del
ENST00000699585.1:c.*185del	ENSP00000514456.1:n.*185del
ENST00000699598.1:c.3976del	ENSP00000514467.1:p.Ser1326LeufsTer2
ENST00000699599.1:c.*189del	ENSP00000514468.1:n.*189del
ENST00000699600.1:c.*637del	ENSP00000514469.1:n.*637del
ENST00000699601.1:c.*2351del	ENSP00000514470.1:n.*2351del
ENST00000699602.1:c.3970del	ENSP00000514471.1:p.Ser1324LeufsTer2
ENST00000699604.1:c.*3800del	ENSP00000514472.1:n.*3800del
ENST00000699605.1:c.3550del	ENSP00000514473.1:p.Ser1184LeufsTer2
ENST00000699606.1:n.2144del
ENST00000685018.1:c.840del	ENSP00000510194.1:n.840del
ENST00000687278.1:c.1763del	ENSP00000509593.1:n.1763del
ENST00000689011.1:c.558del
ENST00000003084.11:c.3976del MANE Select	ENSP00000003084.6:p.Ser1326LeufsTer2
ENST00000647720.1:c.1426del
ENST00000649781.1:c.3793del	ENSP00000497203.1:p.Ser1265LeufsTer2
ENST00000003084.10:c.3976del	ENSP00000003084.6:p.Ser1326LeufsTer2
ENST00000426809.5:c.3886del	ENSP00000389119.1:p.Ser1296LeufsTer2
ENST00000600166.1:c.102del
NM_000492.3:c.3976del , LRG_663t1:c.3976del	NP_000483.3:p.Ser1326LeufsTer2
XM_011515751.1:c.4066del	XP_011514053.1:p.Ser1356LeufsTer2
XM_011515752.1:c.4066del	XP_011514054.1:p.Ser1356LeufsTer2
XM_011515753.1:c.3733del	XP_011514055.1:p.Ser1245LeufsTer2
XM_011515754.1:c.3733del	XP_011514056.1:p.Ser1245LeufsTer2
NM_000492.4:c.3976del MANE Select	NP_000483.3:p.Ser1326LeufsTer2