Canonical Allele Identifier: CA368983739

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305592G>A (hg19) ; chr7:g.117665538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665538G>A , CM000669.2:g.117665538G>A	GRCh38
NC_000007.13:g.117305592G>A , CM000669.1:g.117305592G>A	GRCh37
NC_000007.12:g.117092828G>A	NCBI36
NG_016465.4:g.204755G>A , LRG_663:g.204755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*425G>A	ENSP00000497673.2:n.*425G>A
ENST00000647978.2:c.*3930G>A	ENSP00000497658.1:n.*3930G>A
ENST00000649781.2:c.4033G>A	ENSP00000497203.1:p.Ala1345Thr
ENST00000685018.2:c.*429G>A	ENSP00000510194.2:n.*429G>A
ENST00000687278.2:c.*869G>A	ENSP00000509593.2:n.*869G>A
ENST00000699585.1:c.*425G>A	ENSP00000514456.1:n.*425G>A
ENST00000699598.1:c.4216G>A	ENSP00000514467.1:p.Ala1406Thr
ENST00000699599.1:c.*429G>A	ENSP00000514468.1:n.*429G>A
ENST00000699600.1:c.*877G>A	ENSP00000514469.1:n.*877G>A
ENST00000699601.1:c.*2591G>A	ENSP00000514470.1:n.*2591G>A
ENST00000699602.1:c.4210G>A	ENSP00000514471.1:p.Ala1404Thr
ENST00000699604.1:c.*4040G>A	ENSP00000514472.1:n.*4040G>A
ENST00000699605.1:c.3790G>A	ENSP00000514473.1:p.Ala1264Thr
ENST00000699606.1:n.2384G>A
ENST00000685018.1:c.1080G>A	ENSP00000510194.1:n.1080G>A
ENST00000687278.1:c.2003G>A	ENSP00000509593.1:n.2003G>A
ENST00000689011.1:c.798G>A
ENST00000003084.11:c.4216G>A MANE Select	ENSP00000003084.6:p.Ala1406Thr
ENST00000647720.1:c.1666G>A
ENST00000649781.1:c.4033G>A	ENSP00000497203.1:p.Ala1345Thr
ENST00000003084.10:c.4216G>A	ENSP00000003084.6:p.Ala1406Thr
ENST00000426809.5:c.4126G>A	ENSP00000389119.1:p.Ala1376Thr
ENST00000600166.1:c.342G>A
NM_000492.3:c.4216G>A , LRG_663t1:c.4216G>A	NP_000483.3:p.Ala1406Thr
XM_011515751.1:c.4306G>A	XP_011514053.1:p.Ala1436Thr
XM_011515752.1:c.4306G>A	XP_011514054.1:p.Ala1436Thr
XM_011515753.1:c.3973G>A	XP_011514055.1:p.Ala1325Thr
XM_011515754.1:c.3973G>A	XP_011514056.1:p.Ala1325Thr
NM_000492.4:c.4216G>A MANE Select	NP_000483.3:p.Ala1406Thr