Canonical Allele Identifier: CA327384

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53875
• ClinVar RCV Id: RCV000577503
• dbSNP Id: rs397508661
• MyVariant Identifiers: chr7:g.117304803_117304806dupGGGG (hg19) ; chr7:g.117664749_117664752dupGGGG (hg38)
• PubMed: PMID:21416780

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664749_117664752dup , CM000669.2:g.117664749_117664752dup	GRCh38
NC_000007.13:g.117304803_117304806dup , CM000669.1:g.117304803_117304806dup	GRCh37
NC_000007.12:g.117092039_117092042dup	NCBI36
NG_016465.4:g.203966_203969dup , LRG_663:g.203966_203969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*234_*237dup	ENSP00000497673.2:n.*234_*237dup
ENST00000647978.2:c.*3739_*3742dup	ENSP00000497658.1:n.*3739_*3742dup
ENST00000649781.2:c.3842_3845dup	ENSP00000497203.1:p.Cys1283GlyfsTer16
ENST00000685018.2:c.*238_*241dup	ENSP00000510194.2:n.*238_*241dup
ENST00000687278.2:c.*678_*681dup	ENSP00000509593.2:n.*678_*681dup
ENST00000699585.1:c.*234_*237dup	ENSP00000514456.1:n.*234_*237dup
ENST00000699598.1:c.4025_4028dup	ENSP00000514467.1:p.Cys1344GlyfsTer16
ENST00000699599.1:c.*238_*241dup	ENSP00000514468.1:n.*238_*241dup
ENST00000699600.1:c.*686_*689dup	ENSP00000514469.1:n.*686_*689dup
ENST00000699601.1:c.*2400_*2403dup	ENSP00000514470.1:n.*2400_*2403dup
ENST00000699602.1:c.4019_4022dup	ENSP00000514471.1:p.Cys1342GlyfsTer16
ENST00000699604.1:c.*3849_*3852dup	ENSP00000514472.1:n.*3849_*3852dup
ENST00000699605.1:c.3599_3602dup	ENSP00000514473.1:p.Cys1202GlyfsTer16
ENST00000699606.1:n.2193_2196dup
ENST00000685018.1:c.889_892dup	ENSP00000510194.1:n.889_892dup
ENST00000687278.1:c.1812_1815dup	ENSP00000509593.1:n.1812_1815dup
ENST00000689011.1:c.607_610dup
ENST00000003084.11:c.4025_4028dup MANE Select	ENSP00000003084.6:p.Cys1344GlyfsTer16
ENST00000647720.1:c.1475_1478dup
ENST00000649781.1:c.3842_3845dup	ENSP00000497203.1:p.Cys1283GlyfsTer16
ENST00000003084.10:c.4025_4028dup	ENSP00000003084.6:p.Cys1344GlyfsTer16
ENST00000426809.5:c.3935_3938dup	ENSP00000389119.1:p.Cys1314GlyfsTer16
ENST00000600166.1:c.151_154dup
NM_000492.3:c.4025_4028dup , LRG_663t1:c.4025_4028dup	NP_000483.3:p.Cys1344GlyfsTer16
XM_011515751.1:c.4115_4118dup	XP_011514053.1:p.Cys1374GlyfsTer16
XM_011515752.1:c.4115_4118dup	XP_011514054.1:p.Cys1374GlyfsTer16
XM_011515753.1:c.3782_3785dup	XP_011514055.1:p.Cys1263GlyfsTer16
XM_011515754.1:c.3782_3785dup	XP_011514056.1:p.Cys1263GlyfsTer16
NM_000492.4:c.4025_4028dup MANE Select	NP_000483.3:p.Cys1344GlyfsTer16