Canonical Allele Identifier: CA913190198

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618906
• ClinVar RCV Id: RCV000757801
• dbSNP Id: rs1562911661

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603686dup , CM000669.2:g.117603686dup	GRCh38
NC_000007.13:g.117243740dup , CM000669.1:g.117243740dup	GRCh37
NC_000007.12:g.117030976dup	NCBI36
NG_016465.4:g.142903dup , LRG_663:g.142903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2812dup	ENSP00000497673.2:p.Val938GlyfsTer?
ENST00000647978.2:c.*2526dup	ENSP00000497658.1:n.*2526dup
ENST00000649781.2:c.2629dup	ENSP00000497203.1:p.Val877GlyfsTer?
ENST00000685018.2:c.2812dup	ENSP00000510194.2:p.Val938GlyfsTer?
ENST00000687278.2:c.2812dup	ENSP00000509593.2:p.Val938GlyfsTer?
ENST00000699585.1:c.2812dup	ENSP00000514456.1:p.Val938GlyfsTer?
ENST00000699598.1:c.2812dup	ENSP00000514467.1:p.Val938GlyfsTer?
ENST00000699599.1:c.2812dup	ENSP00000514468.1:p.Val938GlyfsTer?
ENST00000699600.1:c.2812dup	ENSP00000514469.1:p.Val938GlyfsTer?
ENST00000699601.1:c.*1112dup	ENSP00000514470.1:n.*1112dup
ENST00000699602.1:c.2812dup	ENSP00000514471.1:p.Val938GlyfsTer?
ENST00000699604.1:c.*2636dup	ENSP00000514472.1:n.*2636dup
ENST00000699605.1:c.2386dup	ENSP00000514473.1:p.Val796GlyfsTer?
ENST00000687278.1:c.403dup	ENSP00000509593.1:p.Val135GlyfsTer?
ENST00000003084.11:c.2812dup MANE Select	ENSP00000003084.6:p.Val938GlyfsTer?
ENST00000647720.1:c.462dup
ENST00000648260.1:c.1594dup	ENSP00000497957.1:p.Val532GlyfsTer?
ENST00000649406.1:c.2629dup	ENSP00000497965.1:p.Val877GlyfsTer?
ENST00000649781.1:c.2629dup	ENSP00000497203.1:p.Val877GlyfsTer?
ENST00000003084.10:c.2812dup	ENSP00000003084.6:p.Val938GlyfsTer?
ENST00000426809.5:c.2722dup	ENSP00000389119.1:p.Val908GlyfsTer?
NM_000492.3:c.2812dup , LRG_663t1:c.2812dup	NP_000483.3:p.Val938GlyfsTer?
XM_011515751.1:c.2902dup	XP_011514053.1:p.Val968GlyfsTer?
XM_011515752.1:c.2902dup	XP_011514054.1:p.Val968GlyfsTer?
XM_011515753.1:c.2569dup	XP_011514055.1:p.Val857GlyfsTer?
XM_011515754.1:c.2569dup	XP_011514056.1:p.Val857GlyfsTer?
NM_000492.4:c.2812dup MANE Select	NP_000483.3:p.Val938GlyfsTer?