Canonical Allele Identifier: CA913111900

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304812dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664758dup , CM000669.2:g.117664758dup	GRCh38
NC_000007.13:g.117304812dup , CM000669.1:g.117304812dup	GRCh37
NC_000007.12:g.117092048dup	NCBI36
NG_016465.4:g.203975dup , LRG_663:g.203975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*243dup	ENSP00000497673.2:n.*243dup
ENST00000647978.2:c.*3748dup	ENSP00000497658.1:n.*3748dup
ENST00000649781.2:c.3851dup	ENSP00000497203.1:p.Leu1285ProfsTer13
ENST00000685018.2:c.*247dup	ENSP00000510194.2:n.*247dup
ENST00000687278.2:c.*687dup	ENSP00000509593.2:n.*687dup
ENST00000699585.1:c.*243dup	ENSP00000514456.1:n.*243dup
ENST00000699598.1:c.4034dup	ENSP00000514467.1:p.Leu1346ProfsTer13
ENST00000699599.1:c.*247dup	ENSP00000514468.1:n.*247dup
ENST00000699600.1:c.*695dup	ENSP00000514469.1:n.*695dup
ENST00000699601.1:c.*2409dup	ENSP00000514470.1:n.*2409dup
ENST00000699602.1:c.4028dup	ENSP00000514471.1:p.Leu1344ProfsTer13
ENST00000699604.1:c.*3858dup	ENSP00000514472.1:n.*3858dup
ENST00000699605.1:c.3608dup	ENSP00000514473.1:p.Leu1204ProfsTer13
ENST00000699606.1:n.2202dup
ENST00000685018.1:c.898dup	ENSP00000510194.1:n.898dup
ENST00000687278.1:c.1821dup	ENSP00000509593.1:n.1821dup
ENST00000689011.1:c.616dup
ENST00000003084.11:c.4034dup MANE Select	ENSP00000003084.6:p.Leu1346ProfsTer13
ENST00000647720.1:c.1484dup
ENST00000649781.1:c.3851dup	ENSP00000497203.1:p.Leu1285ProfsTer13
ENST00000003084.10:c.4034dup	ENSP00000003084.6:p.Leu1346ProfsTer13
ENST00000426809.5:c.3944dup	ENSP00000389119.1:p.Leu1316ProfsTer13
ENST00000600166.1:c.160dup
NM_000492.3:c.4034dup , LRG_663t1:c.4034dup	NP_000483.3:p.Leu1346ProfsTer13
XM_011515751.1:c.4124dup	XP_011514053.1:p.Leu1376ProfsTer13
XM_011515752.1:c.4124dup	XP_011514054.1:p.Leu1376ProfsTer13
XM_011515753.1:c.3791dup	XP_011514055.1:p.Leu1265ProfsTer13
XM_011515754.1:c.3791dup	XP_011514056.1:p.Leu1265ProfsTer13
NM_000492.4:c.4034dup MANE Select	NP_000483.3:p.Leu1346ProfsTer13