Canonical Allele Identifier: CA2684617327

Gene: CFTR

Linked Data

• gnomAD v4: 7-117531039-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531040dup , CM000669.2:g.117531040dup	GRCh38
NC_000007.13:g.117171094dup , CM000669.1:g.117171094dup	GRCh37
NC_000007.12:g.116958330dup	NCBI36
NG_016465.4:g.70257dup , LRG_663:g.70257dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.415dup	ENSP00000497673.2:p.His139ProfsTer20
ENST00000647978.2:c.*312dup	ENSP00000497658.1:n.*312dup
ENST00000649781.2:c.415dup	ENSP00000497203.1:p.His139ProfsTer20
ENST00000685018.2:c.415dup	ENSP00000510194.2:p.His139ProfsTer20
ENST00000687278.2:c.415dup	ENSP00000509593.2:p.His139ProfsTer20
ENST00000699585.1:c.415dup	ENSP00000514456.1:p.His139ProfsTer20
ENST00000699596.1:c.415dup	ENSP00000514465.1:p.His139ProfsTer20
ENST00000699597.1:c.415dup	ENSP00000514466.1:p.His139ProfsTer20
ENST00000699598.1:c.415dup	ENSP00000514467.1:p.His139ProfsTer20
ENST00000699599.1:c.415dup	ENSP00000514468.1:p.His139ProfsTer20
ENST00000699600.1:c.415dup	ENSP00000514469.1:p.His139ProfsTer20
ENST00000699601.1:c.415dup	ENSP00000514470.1:p.His139ProfsTer20
ENST00000699602.1:c.415dup	ENSP00000514471.1:p.His139ProfsTer20
ENST00000699604.1:c.*239dup	ENSP00000514472.1:n.*239dup
ENST00000699605.1:c.172dup	ENSP00000514473.1:p.His58ProfsTer20
ENST00000003084.11:c.415dup MANE Select	ENSP00000003084.6:p.His139ProfsTer20
ENST00000647978.1:c.*312dup	ENSP00000497658.1:n.*312dup
ENST00000648260.1:c.415dup	ENSP00000497957.1:p.His139ProfsTer20
ENST00000649406.1:c.415dup	ENSP00000497965.1:p.His139ProfsTer20
ENST00000649781.1:c.415dup	ENSP00000497203.1:p.His139ProfsTer20
ENST00000673785.1:c.172dup	ENSP00000501235.1:p.His58ProfsTer20
ENST00000003084.10:c.415dup	ENSP00000003084.6:p.His139ProfsTer20
ENST00000426809.5:c.415dup	ENSP00000389119.1:p.His139ProfsTer20
NM_000492.3:c.415dup , LRG_663t1:c.415dup	NP_000483.3:p.His139ProfsTer20
XM_011515751.1:c.505dup	XP_011514053.1:p.His169ProfsTer20
XM_011515752.1:c.505dup	XP_011514054.1:p.His169ProfsTer20
XM_011515753.1:c.172dup	XP_011514055.1:p.His58ProfsTer20
XM_011515754.1:c.172dup	XP_011514056.1:p.His58ProfsTer20
NM_000492.4:c.415dup MANE Select	NP_000483.3:p.His139ProfsTer20