Canonical Allele Identifier: CA915945472

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818127
• ClinVar RCV Id: RCV001009424
• dbSNP Id: rs1584785072

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531035_117531041del , CM000669.2:g.117531035_117531041del	GRCh38
NC_000007.13:g.117171089_117171095del , CM000669.1:g.117171089_117171095del	GRCh37
NC_000007.12:g.116958325_116958331del	NCBI36
NG_016465.4:g.70252_70258del , LRG_663:g.70252_70258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.410_416del	ENSP00000497673.2:p.Leu137ProfsTer14
ENST00000647978.2:c.*307_*313del	ENSP00000497658.1:n.*307_*313del
ENST00000649781.2:c.410_416del	ENSP00000497203.1:p.Leu137ProfsTer14
ENST00000685018.2:c.410_416del	ENSP00000510194.2:p.Leu137ProfsTer14
ENST00000687278.2:c.410_416del	ENSP00000509593.2:p.Leu137ProfsTer14
ENST00000699585.1:c.410_416del	ENSP00000514456.1:p.Leu137ProfsTer14
ENST00000699596.1:c.410_416del	ENSP00000514465.1:p.Leu137ProfsTer14
ENST00000699597.1:c.410_416del	ENSP00000514466.1:p.Leu137ProfsTer14
ENST00000699598.1:c.410_416del	ENSP00000514467.1:p.Leu137ProfsTer14
ENST00000699599.1:c.410_416del	ENSP00000514468.1:p.Leu137ProfsTer14
ENST00000699600.1:c.410_416del	ENSP00000514469.1:p.Leu137ProfsTer14
ENST00000699601.1:c.410_416del	ENSP00000514470.1:p.Leu137ProfsTer14
ENST00000699602.1:c.410_416del	ENSP00000514471.1:p.Leu137ProfsTer14
ENST00000699604.1:c.*234_*240del	ENSP00000514472.1:n.*234_*240del
ENST00000699605.1:c.167_173del	ENSP00000514473.1:p.Leu56ProfsTer14
ENST00000003084.11:c.410_416del MANE Select	ENSP00000003084.6:p.Leu137ProfsTer14
ENST00000647978.1:c.*307_*313del	ENSP00000497658.1:n.*307_*313del
ENST00000648260.1:c.410_416del	ENSP00000497957.1:p.Leu137ProfsTer14
ENST00000649406.1:c.410_416del	ENSP00000497965.1:p.Leu137ProfsTer14
ENST00000649781.1:c.410_416del	ENSP00000497203.1:p.Leu137ProfsTer14
ENST00000673785.1:c.167_173del	ENSP00000501235.1:p.Leu56ProfsTer14
ENST00000003084.10:c.410_416del	ENSP00000003084.6:p.Leu137ProfsTer14
ENST00000426809.5:c.410_416del	ENSP00000389119.1:p.Leu137ProfsTer14
NM_000492.3:c.410_416del , LRG_663t1:c.410_416del	NP_000483.3:p.Leu137ProfsTer14
XM_011515751.1:c.500_506del	XP_011514053.1:p.Leu167ProfsTer14
XM_011515752.1:c.500_506del	XP_011514054.1:p.Leu167ProfsTer14
XM_011515753.1:c.167_173del	XP_011514055.1:p.Leu56ProfsTer14
XM_011515754.1:c.167_173del	XP_011514056.1:p.Leu56ProfsTer14
NM_000492.4:c.410_416del MANE Select	NP_000483.3:p.Leu137ProfsTer14