Canonical Allele Identifier: CA658822501

Gene: CFTR

Linked Data

• ClinVar Variation Id: 552143
• ClinVar RCV Id: RCV003472086
• dbSNP Id: rs1554389486
• MyVariant Identifiers: chr7:g.117592642_117592645dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592642_117592645dup , CM000669.2:g.117592642_117592645dup	GRCh38
NC_000007.13:g.117232696_117232699dup , CM000669.1:g.117232696_117232699dup	GRCh37
NC_000007.12:g.117019932_117019935dup	NCBI36
NG_016465.4:g.131859_131862dup , LRG_663:g.131859_131862dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2475_2478dup	ENSP00000497673.2:p.Glu827ArgfsTer10
ENST00000647978.2:c.*2189_*2192dup	ENSP00000497658.1:n.*2189_*2192dup
ENST00000649781.2:c.2292_2295dup	ENSP00000497203.1:p.Glu766ArgfsTer10
ENST00000685018.2:c.2475_2478dup	ENSP00000510194.2:p.Glu827ArgfsTer10
ENST00000687278.2:c.2475_2478dup	ENSP00000509593.2:p.Glu827ArgfsTer10
ENST00000699585.1:c.2475_2478dup	ENSP00000514456.1:p.Glu827ArgfsTer10
ENST00000699598.1:c.2475_2478dup	ENSP00000514467.1:p.Glu827ArgfsTer10
ENST00000699599.1:c.2475_2478dup	ENSP00000514468.1:p.Glu827ArgfsTer10
ENST00000699600.1:c.2475_2478dup	ENSP00000514469.1:p.Glu827ArgfsTer10
ENST00000699601.1:c.*775_*778dup	ENSP00000514470.1:n.*775_*778dup
ENST00000699602.1:c.2475_2478dup	ENSP00000514471.1:p.Glu827ArgfsTer10
ENST00000699604.1:c.*2299_*2302dup	ENSP00000514472.1:n.*2299_*2302dup
ENST00000699605.1:c.2049_2052dup	ENSP00000514473.1:p.Glu685ArgfsTer10
ENST00000687278.1:c.66_69dup	ENSP00000509593.1:p.Glu24ArgfsTer10
ENST00000003084.11:c.2475_2478dup MANE Select	ENSP00000003084.6:p.Glu827ArgfsTer10
ENST00000647720.1:c.125_128dup
ENST00000647978.1:c.*2189_*2192dup	ENSP00000497658.1:n.*2189_*2192dup
ENST00000648260.1:c.1402-10184_1402-10181dup	ENSP00000497957.1:n.1402-10184_1402-10181...
ENST00000649406.1:c.2292_2295dup	ENSP00000497965.1:p.Glu766ArgfsTer10
ENST00000649781.1:c.2292_2295dup	ENSP00000497203.1:p.Glu766ArgfsTer10
ENST00000003084.10:c.2475_2478dup	ENSP00000003084.6:p.Glu827ArgfsTer10
ENST00000426809.5:c.2385_2388dup	ENSP00000389119.1:p.Glu797ArgfsTer10
NM_000492.3:c.2475_2478dup , LRG_663t1:c.2475_2478dup	NP_000483.3:p.Glu827ArgfsTer10
XM_011515751.1:c.2565_2568dup	XP_011514053.1:p.Glu857ArgfsTer10
XM_011515752.1:c.2565_2568dup	XP_011514054.1:p.Glu857ArgfsTer10
XM_011515753.1:c.2232_2235dup	XP_011514055.1:p.Glu746ArgfsTer10
XM_011515754.1:c.2232_2235dup	XP_011514056.1:p.Glu746ArgfsTer10
NM_000492.4:c.2475_2478dup MANE Select	NP_000483.3:p.Glu827ArgfsTer10