Canonical Allele Identifier: CA2580076510

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1705226
• ClinVar RCV Id: RCV002281856

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592140del , CM000669.2:g.117592140del	GRCh38
NC_000007.13:g.117232194del , CM000669.1:g.117232194del	GRCh37
NC_000007.12:g.117019430del	NCBI36
NG_016465.4:g.131357del , LRG_663:g.131357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1973del	ENSP00000497673.2:p.Arg658LysfsTer5
ENST00000647978.2:c.*1687del	ENSP00000497658.1:n.*1687del
ENST00000649781.2:c.1790del	ENSP00000497203.1:p.Arg597LysfsTer5
ENST00000685018.2:c.1973del	ENSP00000510194.2:p.Arg658LysfsTer5
ENST00000687278.2:c.1973del	ENSP00000509593.2:p.Arg658LysfsTer5
ENST00000699585.1:c.1973del	ENSP00000514456.1:p.Arg658LysfsTer5
ENST00000699598.1:c.1973del	ENSP00000514467.1:p.Arg658LysfsTer5
ENST00000699599.1:c.1973del	ENSP00000514468.1:p.Arg658LysfsTer5
ENST00000699600.1:c.1973del	ENSP00000514469.1:p.Arg658LysfsTer5
ENST00000699601.1:c.*273del	ENSP00000514470.1:n.*273del
ENST00000699602.1:c.1973del	ENSP00000514471.1:p.Arg658LysfsTer5
ENST00000699604.1:c.*1797del	ENSP00000514472.1:n.*1797del
ENST00000699605.1:c.1547del	ENSP00000514473.1:p.Arg516LysfsTer5
ENST00000003084.11:c.1973del MANE Select	ENSP00000003084.6:p.Arg658LysfsTer5
ENST00000647978.1:c.*1687del	ENSP00000497658.1:n.*1687del
ENST00000648260.1:c.1402-10686del	ENSP00000497957.1:n.1402-10686del
ENST00000649406.1:c.1790del	ENSP00000497965.1:p.Arg597LysfsTer5
ENST00000649781.1:c.1790del	ENSP00000497203.1:p.Arg597LysfsTer5
ENST00000003084.10:c.1973del	ENSP00000003084.6:p.Arg658LysfsTer5
ENST00000426809.5:c.1883del	ENSP00000389119.1:p.Arg628LysfsTer5
NM_000492.3:c.1973del , LRG_663t1:c.1973del	NP_000483.3:p.Arg658LysfsTer5
XM_011515751.1:c.2063del	XP_011514053.1:p.Arg688LysfsTer5
XM_011515752.1:c.2063del	XP_011514054.1:p.Arg688LysfsTer5
XM_011515753.1:c.1730del	XP_011514055.1:p.Arg577LysfsTer5
XM_011515754.1:c.1730del	XP_011514056.1:p.Arg577LysfsTer5
NM_000492.4:c.1973del MANE Select	NP_000483.3:p.Arg658LysfsTer5