Canonical Allele Identifier: CA2573141590

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1411468
• ClinVar RCV Id: RCV001920657
• dbSNP Id: rs2116085331
• gnomAD v4: 7-117611762-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611763del , CM000669.2:g.117611763del	GRCh38
NC_000007.13:g.117251817del , CM000669.1:g.117251817del	GRCh37
NC_000007.12:g.117039053del	NCBI36
NG_016465.4:g.150980del , LRG_663:g.150980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3322del	ENSP00000497673.2:p.Val1108SerfsTer13
ENST00000647978.2:c.*3036del	ENSP00000497658.1:n.*3036del
ENST00000649781.2:c.3139del	ENSP00000497203.1:p.Val1047SerfsTer13
ENST00000685018.2:c.3322del	ENSP00000510194.2:p.Val1108SerfsTer13
ENST00000687278.2:c.3322del	ENSP00000509593.2:p.Val1108SerfsTer13
ENST00000699585.1:c.3322del	ENSP00000514456.1:p.Val1108SerfsTer13
ENST00000699598.1:c.3322del	ENSP00000514467.1:p.Val1108SerfsTer13
ENST00000699599.1:c.3322del	ENSP00000514468.1:p.Val1108SerfsTer13
ENST00000699600.1:c.3322del	ENSP00000514469.1:p.Val1108SerfsTer13
ENST00000699601.1:c.*1622del	ENSP00000514470.1:n.*1622del
ENST00000699602.1:c.3322del	ENSP00000514471.1:p.Val1108SerfsTer13
ENST00000699604.1:c.*3146del	ENSP00000514472.1:n.*3146del
ENST00000699605.1:c.2896del	ENSP00000514473.1:p.Val966SerfsTer13
ENST00000685018.1:c.70del	ENSP00000510194.1:p.Val24SerfsTer13
ENST00000687278.1:c.913del	ENSP00000509593.1:p.Val305SerfsTer13
ENST00000003084.11:c.3322del MANE Select	ENSP00000003084.6:p.Val1108SerfsTer13
ENST00000647720.1:c.972del
ENST00000648260.1:c.2104del	ENSP00000497957.1:p.Val702SerfsTer13
ENST00000649406.1:c.3139del	ENSP00000497965.1:p.Val1047SerfsTer13
ENST00000649781.1:c.3139del	ENSP00000497203.1:p.Val1047SerfsTer13
ENST00000003084.10:c.3322del	ENSP00000003084.6:p.Val1108SerfsTer13
ENST00000426809.5:c.3232del	ENSP00000389119.1:p.Val1078SerfsTer13
ENST00000468795.1:c.147del
NM_000492.3:c.3322del , LRG_663t1:c.3322del	NP_000483.3:p.Val1108SerfsTer13
XM_011515751.1:c.3412del	XP_011514053.1:p.Val1138SerfsTer13
XM_011515752.1:c.3412del	XP_011514054.1:p.Val1138SerfsTer13
XM_011515753.1:c.3079del	XP_011514055.1:p.Val1027SerfsTer13
XM_011515754.1:c.3079del	XP_011514056.1:p.Val1027SerfsTer13
NM_000492.4:c.3322del MANE Select	NP_000483.3:p.Val1108SerfsTer13