Canonical Allele Identifier: CA577680765

Gene: CFTR

Linked Data

• dbSNP Id: rs1562907979
• gnomAD v2: 7-117232278-CT-C
• gnomAD v4: 7-117592224-CT-C
• MyVariant Identifiers: chr7:g.117232279del (hg19) ; chr7:g.117592225del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592228del , CM000669.2:g.117592228del	GRCh38
NC_000007.13:g.117232282del , CM000669.1:g.117232282del	GRCh37
NC_000007.12:g.117019518del	NCBI36
NG_016465.4:g.131445del , LRG_663:g.131445del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2061del	ENSP00000497673.2:p.Phe687LeufsTer?
ENST00000647978.2:c.*1775del	ENSP00000497658.1:n.*1775del
ENST00000649781.2:c.1878del	ENSP00000497203.1:p.Phe626LeufsTer?
ENST00000685018.2:c.2061del	ENSP00000510194.2:p.Phe687LeufsTer?
ENST00000687278.2:c.2061del	ENSP00000509593.2:p.Phe687LeufsTer?
ENST00000699585.1:c.2061del	ENSP00000514456.1:p.Phe687LeufsTer?
ENST00000699598.1:c.2061del	ENSP00000514467.1:p.Phe687LeufsTer?
ENST00000699599.1:c.2061del	ENSP00000514468.1:p.Phe687LeufsTer?
ENST00000699600.1:c.2061del	ENSP00000514469.1:p.Phe687LeufsTer?
ENST00000699601.1:c.*361del	ENSP00000514470.1:n.*361del
ENST00000699602.1:c.2061del	ENSP00000514471.1:p.Phe687LeufsTer?
ENST00000699604.1:c.*1885del	ENSP00000514472.1:n.*1885del
ENST00000699605.1:c.1635del	ENSP00000514473.1:p.Phe545LeufsTer?
ENST00000003084.11:c.2061del MANE Select	ENSP00000003084.6:p.Phe687LeufsTer?
ENST00000647978.1:c.*1775del	ENSP00000497658.1:n.*1775del
ENST00000648260.1:c.1402-10598del	ENSP00000497957.1:n.1402-10598del
ENST00000649406.1:c.1878del	ENSP00000497965.1:p.Phe626LeufsTer?
ENST00000649781.1:c.1878del	ENSP00000497203.1:p.Phe626LeufsTer?
ENST00000003084.10:c.2061del	ENSP00000003084.6:p.Phe687LeufsTer?
ENST00000426809.5:c.1971del	ENSP00000389119.1:p.Phe657LeufsTer?
NM_000492.3:c.2061del , LRG_663t1:c.2061del	NP_000483.3:p.Phe687LeufsTer?
XM_011515751.1:c.2151del	XP_011514053.1:p.Phe717LeufsTer?
XM_011515752.1:c.2151del	XP_011514054.1:p.Phe717LeufsTer?
XM_011515753.1:c.1818del	XP_011514055.1:p.Phe606LeufsTer?
XM_011515754.1:c.1818del	XP_011514056.1:p.Phe606LeufsTer?
NM_000492.4:c.2061del MANE Select	NP_000483.3:p.Phe687LeufsTer?