Canonical Allele Identifier: CA2684649158

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664747-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664752dup , CM000669.2:g.117664752dup	GRCh38
NC_000007.13:g.117304806dup , CM000669.1:g.117304806dup	GRCh37
NC_000007.12:g.117092042dup	NCBI36
NG_016465.4:g.203969dup , LRG_663:g.203969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*237dup	ENSP00000497673.2:n.*237dup
ENST00000647978.2:c.*3742dup	ENSP00000497658.1:n.*3742dup
ENST00000649781.2:c.3845dup	ENSP00000497203.1:p.Cys1283LeufsTer15
ENST00000685018.2:c.*241dup	ENSP00000510194.2:n.*241dup
ENST00000687278.2:c.*681dup	ENSP00000509593.2:n.*681dup
ENST00000699585.1:c.*237dup	ENSP00000514456.1:n.*237dup
ENST00000699598.1:c.4028dup	ENSP00000514467.1:p.Cys1344LeufsTer15
ENST00000699599.1:c.*241dup	ENSP00000514468.1:n.*241dup
ENST00000699600.1:c.*689dup	ENSP00000514469.1:n.*689dup
ENST00000699601.1:c.*2403dup	ENSP00000514470.1:n.*2403dup
ENST00000699602.1:c.4022dup	ENSP00000514471.1:p.Cys1342LeufsTer15
ENST00000699604.1:c.*3852dup	ENSP00000514472.1:n.*3852dup
ENST00000699605.1:c.3602dup	ENSP00000514473.1:p.Cys1202LeufsTer15
ENST00000699606.1:n.2196dup
ENST00000685018.1:c.892dup	ENSP00000510194.1:n.892dup
ENST00000687278.1:c.1815dup	ENSP00000509593.1:n.1815dup
ENST00000689011.1:c.610dup
ENST00000003084.11:c.4028dup MANE Select	ENSP00000003084.6:p.Cys1344LeufsTer15
ENST00000647720.1:c.1478dup
ENST00000649781.1:c.3845dup	ENSP00000497203.1:p.Cys1283LeufsTer15
ENST00000003084.10:c.4028dup	ENSP00000003084.6:p.Cys1344LeufsTer15
ENST00000426809.5:c.3938dup	ENSP00000389119.1:p.Cys1314LeufsTer15
ENST00000600166.1:c.154dup
NM_000492.3:c.4028dup , LRG_663t1:c.4028dup	NP_000483.3:p.Cys1344LeufsTer15
XM_011515751.1:c.4118dup	XP_011514053.1:p.Cys1374LeufsTer15
XM_011515752.1:c.4118dup	XP_011514054.1:p.Cys1374LeufsTer15
XM_011515753.1:c.3785dup	XP_011514055.1:p.Cys1263LeufsTer15
XM_011515754.1:c.3785dup	XP_011514056.1:p.Cys1263LeufsTer15
NM_000492.4:c.4028dup MANE Select	NP_000483.3:p.Cys1344LeufsTer15