Canonical Allele Identifier: CA327386

Gene: CFTR

Linked Data

• dbSNP Id: rs397508663

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664763dup , CM000669.2:g.117664763dup	GRCh38
NC_000007.13:g.117304817dup , CM000669.1:g.117304817dup	GRCh37
NC_000007.12:g.117092053dup	NCBI36
NG_016465.4:g.203980dup , LRG_663:g.203980dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*248dup	ENSP00000497673.2:n.*248dup
ENST00000647978.2:c.*3753dup	ENSP00000497658.1:n.*3753dup
ENST00000649781.2:c.3856dup	ENSP00000497203.1:p.Ser1286LysfsTer12
ENST00000685018.2:c.*252dup	ENSP00000510194.2:n.*252dup
ENST00000687278.2:c.*692dup	ENSP00000509593.2:n.*692dup
ENST00000699585.1:c.*248dup	ENSP00000514456.1:n.*248dup
ENST00000699598.1:c.4039dup	ENSP00000514467.1:p.Ser1347LysfsTer12
ENST00000699599.1:c.*252dup	ENSP00000514468.1:n.*252dup
ENST00000699600.1:c.*700dup	ENSP00000514469.1:n.*700dup
ENST00000699601.1:c.*2414dup	ENSP00000514470.1:n.*2414dup
ENST00000699602.1:c.4033dup	ENSP00000514471.1:p.Ser1345LysfsTer12
ENST00000699604.1:c.*3863dup	ENSP00000514472.1:n.*3863dup
ENST00000699605.1:c.3613dup	ENSP00000514473.1:p.Ser1205LysfsTer12
ENST00000699606.1:n.2207dup
ENST00000685018.1:c.903dup	ENSP00000510194.1:n.903dup
ENST00000687278.1:c.1826dup	ENSP00000509593.1:n.1826dup
ENST00000689011.1:c.621dup
ENST00000003084.11:c.4039dup MANE Select	ENSP00000003084.6:p.Ser1347LysfsTer12
ENST00000647720.1:c.1489dup
ENST00000649781.1:c.3856dup	ENSP00000497203.1:p.Ser1286LysfsTer12
ENST00000003084.10:c.4039dup	ENSP00000003084.6:p.Ser1347LysfsTer12
ENST00000426809.5:c.3949dup	ENSP00000389119.1:p.Ser1317LysfsTer12
ENST00000600166.1:c.165dup
NM_000492.3:c.4039dup , LRG_663t1:c.4039dup	NP_000483.3:p.Ser1347LysfsTer12
XM_011515751.1:c.4129dup	XP_011514053.1:p.Ser1377LysfsTer12
XM_011515752.1:c.4129dup	XP_011514054.1:p.Ser1377LysfsTer12
XM_011515753.1:c.3796dup	XP_011514055.1:p.Ser1266LysfsTer12
XM_011515754.1:c.3796dup	XP_011514056.1:p.Ser1266LysfsTer12
NM_000492.4:c.4039dup MANE Select	NP_000483.3:p.Ser1347LysfsTer12