Canonical Allele Identifier: CA2684619355

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2691445
• ClinVar RCV Id: RCV003486505
• gnomAD v4: 7-117592137-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592139dup , CM000669.2:g.117592139dup	GRCh38
NC_000007.13:g.117232193dup , CM000669.1:g.117232193dup	GRCh37
NC_000007.12:g.117019429dup	NCBI36
NG_016465.4:g.131356dup , LRG_663:g.131356dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1972dup	ENSP00000497673.2:p.Arg658LysfsTer7
ENST00000647978.2:c.*1686dup	ENSP00000497658.1:n.*1686dup
ENST00000649781.2:c.1789dup	ENSP00000497203.1:p.Arg597LysfsTer7
ENST00000685018.2:c.1972dup	ENSP00000510194.2:p.Arg658LysfsTer7
ENST00000687278.2:c.1972dup	ENSP00000509593.2:p.Arg658LysfsTer7
ENST00000699585.1:c.1972dup	ENSP00000514456.1:p.Arg658LysfsTer7
ENST00000699598.1:c.1972dup	ENSP00000514467.1:p.Arg658LysfsTer7
ENST00000699599.1:c.1972dup	ENSP00000514468.1:p.Arg658LysfsTer7
ENST00000699600.1:c.1972dup	ENSP00000514469.1:p.Arg658LysfsTer7
ENST00000699601.1:c.*272dup	ENSP00000514470.1:n.*272dup
ENST00000699602.1:c.1972dup	ENSP00000514471.1:p.Arg658LysfsTer7
ENST00000699604.1:c.*1796dup	ENSP00000514472.1:n.*1796dup
ENST00000699605.1:c.1546dup	ENSP00000514473.1:p.Arg516LysfsTer7
ENST00000003084.11:c.1972dup MANE Select	ENSP00000003084.6:p.Arg658LysfsTer7
ENST00000647978.1:c.*1686dup	ENSP00000497658.1:n.*1686dup
ENST00000648260.1:c.1402-10687dup	ENSP00000497957.1:n.1402-10687dup
ENST00000649406.1:c.1789dup	ENSP00000497965.1:p.Arg597LysfsTer7
ENST00000649781.1:c.1789dup	ENSP00000497203.1:p.Arg597LysfsTer7
ENST00000003084.10:c.1972dup	ENSP00000003084.6:p.Arg658LysfsTer7
ENST00000426809.5:c.1882dup	ENSP00000389119.1:p.Arg628LysfsTer7
NM_000492.3:c.1972dup , LRG_663t1:c.1972dup	NP_000483.3:p.Arg658LysfsTer7
XM_011515751.1:c.2062dup	XP_011514053.1:p.Arg688LysfsTer7
XM_011515752.1:c.2062dup	XP_011514054.1:p.Arg688LysfsTer7
XM_011515753.1:c.1729dup	XP_011514055.1:p.Arg577LysfsTer7
XM_011515754.1:c.1729dup	XP_011514056.1:p.Arg577LysfsTer7
NM_000492.4:c.1972dup MANE Select	NP_000483.3:p.Arg658LysfsTer7