Canonical Allele Identifier: CA327510

Gene: CFTR

Linked Data

• dbSNP Id: rs397508726
• MyVariant Identifiers: chr7:g.117171152_117171153insT (hg19) ; chr7:g.117531098_117531099insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531101dup , CM000669.2:g.117531101dup	GRCh38
NC_000007.13:g.117171155dup , CM000669.1:g.117171155dup	GRCh37
NC_000007.12:g.116958391dup	NCBI36
NG_016465.4:g.70318dup , LRG_663:g.70318dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.476dup	ENSP00000497673.2:p.Leu159PhefsTer4
ENST00000647978.2:c.*373dup	ENSP00000497658.1:n.*373dup
ENST00000649781.2:c.476dup	ENSP00000497203.1:p.Leu159PhefsTer4
ENST00000685018.2:c.476dup	ENSP00000510194.2:p.Leu159PhefsTer4
ENST00000687278.2:c.476dup	ENSP00000509593.2:p.Leu159PhefsTer4
ENST00000699585.1:c.476dup	ENSP00000514456.1:p.Leu159PhefsTer4
ENST00000699596.1:c.476dup	ENSP00000514465.1:p.Leu159PhefsTer4
ENST00000699597.1:c.476dup	ENSP00000514466.1:p.Leu159PhefsTer4
ENST00000699598.1:c.476dup	ENSP00000514467.1:p.Leu159PhefsTer4
ENST00000699599.1:c.476dup	ENSP00000514468.1:p.Leu159PhefsTer4
ENST00000699600.1:c.476dup	ENSP00000514469.1:p.Leu159PhefsTer4
ENST00000699601.1:c.476dup	ENSP00000514470.1:p.Leu159PhefsTer4
ENST00000699602.1:c.476dup	ENSP00000514471.1:p.Leu159PhefsTer4
ENST00000699604.1:c.*300dup	ENSP00000514472.1:n.*300dup
ENST00000699605.1:c.233dup	ENSP00000514473.1:p.Leu78PhefsTer4
ENST00000003084.11:c.476dup MANE Select	ENSP00000003084.6:p.Leu159PhefsTer4
ENST00000647978.1:c.*373dup	ENSP00000497658.1:n.*373dup
ENST00000648260.1:c.476dup	ENSP00000497957.1:p.Leu159PhefsTer4
ENST00000649406.1:c.476dup	ENSP00000497965.1:p.Leu159PhefsTer4
ENST00000649781.1:c.476dup	ENSP00000497203.1:p.Leu159PhefsTer4
ENST00000673785.1:c.233dup	ENSP00000501235.1:p.Leu78PhefsTer4
ENST00000003084.10:c.476dup	ENSP00000003084.6:p.Leu159PhefsTer4
ENST00000426809.5:c.476dup	ENSP00000389119.1:p.Leu159PhefsTer4
NM_000492.3:c.476dup , LRG_663t1:c.476dup	NP_000483.3:p.Leu159PhefsTer4
XM_011515751.1:c.566dup	XP_011514053.1:p.Leu189PhefsTer4
XM_011515752.1:c.566dup	XP_011514054.1:p.Leu189PhefsTer4
XM_011515753.1:c.233dup	XP_011514055.1:p.Leu78PhefsTer4
XM_011515754.1:c.233dup	XP_011514056.1:p.Leu78PhefsTer4
NM_000492.4:c.476dup MANE Select	NP_000483.3:p.Leu159PhefsTer4