Canonical Allele Identifier: CA457228784

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117246729T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606675T>A , CM000669.2:g.117606675T>A	GRCh38
NC_000007.13:g.117246729T>A , CM000669.1:g.117246729T>A	GRCh37
NC_000007.12:g.117033965T>A	NCBI36
NG_016465.4:g.145892T>A , LRG_663:g.145892T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2910T>A	ENSP00000497673.2:p.Gly970=
ENST00000647978.2:c.*2624T>A	ENSP00000497658.1:n.*2624T>A
ENST00000649781.2:c.2727T>A	ENSP00000497203.1:p.Gly909=
ENST00000685018.2:c.2910T>A	ENSP00000510194.2:p.Gly970=
ENST00000687278.2:c.2910T>A	ENSP00000509593.2:p.Gly970=
ENST00000699585.1:c.2910T>A	ENSP00000514456.1:p.Gly970=
ENST00000699598.1:c.2910T>A	ENSP00000514467.1:p.Gly970=
ENST00000699599.1:c.2910T>A	ENSP00000514468.1:p.Gly970=
ENST00000699600.1:c.2910T>A	ENSP00000514469.1:p.Gly970=
ENST00000699601.1:c.*1210T>A	ENSP00000514470.1:n.*1210T>A
ENST00000699602.1:c.2910T>A	ENSP00000514471.1:p.Gly970=
ENST00000699604.1:c.*2734T>A	ENSP00000514472.1:n.*2734T>A
ENST00000699605.1:c.2484T>A	ENSP00000514473.1:p.Gly828=
ENST00000687278.1:c.501T>A	ENSP00000509593.1:p.Gly167=
ENST00000003084.11:c.2910T>A MANE Select	ENSP00000003084.6:p.Gly970=
ENST00000647720.1:c.560T>A
ENST00000648260.1:c.1692T>A	ENSP00000497957.1:p.Gly564=
ENST00000649406.1:c.2727T>A	ENSP00000497965.1:p.Gly909=
ENST00000649781.1:c.2727T>A	ENSP00000497203.1:p.Gly909=
ENST00000003084.10:c.2910T>A	ENSP00000003084.6:p.Gly970=
ENST00000426809.5:c.2820T>A	ENSP00000389119.1:p.Gly940=
NM_000492.3:c.2910T>A , LRG_663t1:c.2910T>A	NP_000483.3:p.Gly970=
XM_011515751.1:c.3000T>A	XP_011514053.1:p.Gly1000=
XM_011515752.1:c.3000T>A	XP_011514054.1:p.Gly1000=
XM_011515753.1:c.2667T>A	XP_011514055.1:p.Gly889=
XM_011515754.1:c.2667T>A	XP_011514056.1:p.Gly889=
NM_000492.4:c.2910T>A MANE Select	NP_000483.3:p.Gly970=