Canonical Allele Identifier: CA326838

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53506
• ClinVar RCV Id: RCV001009448
• dbSNP Id: rs397508391
• MyVariant Identifiers: chr7:g.117235001del (hg19) ; chr7:g.117594947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594947del , CM000669.2:g.117594947del	GRCh38
NC_000007.13:g.117235001del , CM000669.1:g.117235001del	GRCh37
NC_000007.12:g.117022237del	NCBI36
NG_016465.4:g.134164del , LRG_663:g.134164del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2508del	ENSP00000497673.2:p.Asp836GlufsTer8
ENST00000647978.2:c.*2222del	ENSP00000497658.1:n.*2222del
ENST00000649781.2:c.2325del	ENSP00000497203.1:p.Asp775GlufsTer8
ENST00000685018.2:c.2508del	ENSP00000510194.2:p.Asp836GlufsTer8
ENST00000687278.2:c.2508del	ENSP00000509593.2:p.Asp836GlufsTer8
ENST00000699585.1:c.2508del	ENSP00000514456.1:p.Asp836GlufsTer8
ENST00000699598.1:c.2508del	ENSP00000514467.1:p.Asp836GlufsTer8
ENST00000699599.1:c.2508del	ENSP00000514468.1:p.Asp836GlufsTer8
ENST00000699600.1:c.2508del	ENSP00000514469.1:p.Asp836GlufsTer8
ENST00000699601.1:c.*808del	ENSP00000514470.1:n.*808del
ENST00000699602.1:c.2508del	ENSP00000514471.1:p.Asp836GlufsTer8
ENST00000699604.1:c.*2332del	ENSP00000514472.1:n.*2332del
ENST00000699605.1:c.2082del	ENSP00000514473.1:p.Asp694GlufsTer8
ENST00000687278.1:c.99del	ENSP00000509593.1:p.Asp33GlufsTer8
ENST00000003084.11:c.2508del MANE Select	ENSP00000003084.6:p.Asp836GlufsTer8
ENST00000647720.1:c.158del
ENST00000647978.1:c.*2222del	ENSP00000497658.1:n.*2222del
ENST00000648260.1:c.1402-7879del	ENSP00000497957.1:n.1402-7879del
ENST00000649406.1:c.2325del	ENSP00000497965.1:p.Asp775GlufsTer8
ENST00000649781.1:c.2325del	ENSP00000497203.1:p.Asp775GlufsTer8
ENST00000003084.10:c.2508del	ENSP00000003084.6:p.Asp836GlufsTer8
ENST00000426809.5:c.2418del	ENSP00000389119.1:p.Asp806GlufsTer8
NM_000492.3:c.2508del , LRG_663t1:c.2508del	NP_000483.3:p.Asp836GlufsTer8
XM_011515751.1:c.2598del	XP_011514053.1:p.Asp866GlufsTer8
XM_011515752.1:c.2598del	XP_011514054.1:p.Asp866GlufsTer8
XM_011515753.1:c.2265del	XP_011514055.1:p.Asp755GlufsTer8
XM_011515754.1:c.2265del	XP_011514056.1:p.Asp755GlufsTer8
NM_000492.4:c.2508del MANE Select	NP_000483.3:p.Asp836GlufsTer8