Canonical Allele Identifier: CA832122082

Gene: CFTR

Linked Data

• dbSNP Id: rs1310136047
• gnomAD v3: 7-117664760-C-CT
• gnomAD v4: 7-117664760-C-CT
• MyVariant Identifiers: chr7:g.117304814_117304815insT (hg19) ; chr7:g.117664760_117664761insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664761dup , CM000669.2:g.117664761dup	GRCh38
NC_000007.13:g.117304815dup , CM000669.1:g.117304815dup	GRCh37
NC_000007.12:g.117092051dup	NCBI36
NG_016465.4:g.203978dup , LRG_663:g.203978dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*246dup	ENSP00000497673.2:n.*246dup
ENST00000647978.2:c.*3751dup	ENSP00000497658.1:n.*3751dup
ENST00000649781.2:c.3854dup	ENSP00000497203.1:p.Ser1286LysfsTer12
ENST00000685018.2:c.*250dup	ENSP00000510194.2:n.*250dup
ENST00000687278.2:c.*690dup	ENSP00000509593.2:n.*690dup
ENST00000699585.1:c.*246dup	ENSP00000514456.1:n.*246dup
ENST00000699598.1:c.4037dup	ENSP00000514467.1:p.Ser1347LysfsTer12
ENST00000699599.1:c.*250dup	ENSP00000514468.1:n.*250dup
ENST00000699600.1:c.*698dup	ENSP00000514469.1:n.*698dup
ENST00000699601.1:c.*2412dup	ENSP00000514470.1:n.*2412dup
ENST00000699602.1:c.4031dup	ENSP00000514471.1:p.Ser1345LysfsTer12
ENST00000699604.1:c.*3861dup	ENSP00000514472.1:n.*3861dup
ENST00000699605.1:c.3611dup	ENSP00000514473.1:p.Ser1205LysfsTer12
ENST00000699606.1:n.2205dup
ENST00000685018.1:c.901dup	ENSP00000510194.1:n.901dup
ENST00000687278.1:c.1824dup	ENSP00000509593.1:n.1824dup
ENST00000689011.1:c.619dup
ENST00000003084.11:c.4037dup MANE Select	ENSP00000003084.6:p.Ser1347LysfsTer12
ENST00000647720.1:c.1487dup
ENST00000649781.1:c.3854dup	ENSP00000497203.1:p.Ser1286LysfsTer12
ENST00000003084.10:c.4037dup	ENSP00000003084.6:p.Ser1347LysfsTer12
ENST00000426809.5:c.3947dup	ENSP00000389119.1:p.Ser1317LysfsTer12
ENST00000600166.1:c.163dup
NM_000492.3:c.4037dup , LRG_663t1:c.4037dup	NP_000483.3:p.Ser1347LysfsTer12
XM_011515751.1:c.4127dup	XP_011514053.1:p.Ser1377LysfsTer12
XM_011515752.1:c.4127dup	XP_011514054.1:p.Ser1377LysfsTer12
XM_011515753.1:c.3794dup	XP_011514055.1:p.Ser1266LysfsTer12
XM_011515754.1:c.3794dup	XP_011514056.1:p.Ser1266LysfsTer12
NM_000492.4:c.4037dup MANE Select	NP_000483.3:p.Ser1347LysfsTer12