Canonical Allele Identifier: CA658821704

Gene: CFTR

Linked Data

• ClinVar Variation Id: 550233
• ClinVar RCV Id: RCV000664926
• dbSNP Id: rs1554397497
• MyVariant Identifiers: chr7:g.117664759_117664762dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664759_117664762dup , CM000669.2:g.117664759_117664762dup	GRCh38
NC_000007.13:g.117304813_117304816dup , CM000669.1:g.117304813_117304816dup	GRCh37
NC_000007.12:g.117092049_117092052dup	NCBI36
NG_016465.4:g.203976_203979dup , LRG_663:g.203976_203979dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*244_*247dup	ENSP00000497673.2:n.*244_*247dup
ENST00000647978.2:c.*3749_*3752dup	ENSP00000497658.1:n.*3749_*3752dup
ENST00000649781.2:c.3852_3855dup	ENSP00000497203.1:p.Ser1286ProfsTer13
ENST00000685018.2:c.*248_*251dup	ENSP00000510194.2:n.*248_*251dup
ENST00000687278.2:c.*688_*691dup	ENSP00000509593.2:n.*688_*691dup
ENST00000699585.1:c.*244_*247dup	ENSP00000514456.1:n.*244_*247dup
ENST00000699598.1:c.4035_4038dup	ENSP00000514467.1:p.Ser1347ProfsTer13
ENST00000699599.1:c.*248_*251dup	ENSP00000514468.1:n.*248_*251dup
ENST00000699600.1:c.*696_*699dup	ENSP00000514469.1:n.*696_*699dup
ENST00000699601.1:c.*2410_*2413dup	ENSP00000514470.1:n.*2410_*2413dup
ENST00000699602.1:c.4029_4032dup	ENSP00000514471.1:p.Ser1345ProfsTer13
ENST00000699604.1:c.*3859_*3862dup	ENSP00000514472.1:n.*3859_*3862dup
ENST00000699605.1:c.3609_3612dup	ENSP00000514473.1:p.Ser1205ProfsTer13
ENST00000699606.1:n.2203_2206dup
ENST00000685018.1:c.899_902dup	ENSP00000510194.1:n.899_902dup
ENST00000687278.1:c.1822_1825dup	ENSP00000509593.1:n.1822_1825dup
ENST00000689011.1:c.617_620dup
ENST00000003084.11:c.4035_4038dup MANE Select	ENSP00000003084.6:p.Ser1347ProfsTer13
ENST00000647720.1:c.1485_1488dup
ENST00000649781.1:c.3852_3855dup	ENSP00000497203.1:p.Ser1286ProfsTer13
ENST00000003084.10:c.4035_4038dup	ENSP00000003084.6:p.Ser1347ProfsTer13
ENST00000426809.5:c.3945_3948dup	ENSP00000389119.1:p.Ser1317ProfsTer13
ENST00000600166.1:c.161_164dup
NM_000492.3:c.4035_4038dup , LRG_663t1:c.4035_4038dup	NP_000483.3:p.Ser1347ProfsTer13
XM_011515751.1:c.4125_4128dup	XP_011514053.1:p.Ser1377ProfsTer13
XM_011515752.1:c.4125_4128dup	XP_011514054.1:p.Ser1377ProfsTer13
XM_011515753.1:c.3792_3795dup	XP_011514055.1:p.Ser1266ProfsTer13
XM_011515754.1:c.3792_3795dup	XP_011514056.1:p.Ser1266ProfsTer13
NM_000492.4:c.4035_4038dup MANE Select	NP_000483.3:p.Ser1347ProfsTer13