Canonical Allele Identifier: CA368974803

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282553T>A (hg19) ; chr7:g.117642499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642499T>A , CM000669.2:g.117642499T>A	GRCh38
NC_000007.13:g.117282553T>A , CM000669.1:g.117282553T>A	GRCh37
NC_000007.12:g.117069789T>A	NCBI36
NG_016465.4:g.181716T>A , LRG_663:g.181716T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3579T>A	ENSP00000497673.2:p.Thr1193=
ENST00000647978.2:c.*3493T>A	ENSP00000497658.1:n.*3493T>A
ENST00000649781.2:c.3596T>A	ENSP00000497203.1:p.Leu1199Gln
ENST00000685018.2:c.3779T>A	ENSP00000510194.2:p.Leu1260Gln
ENST00000687278.2:c.*432T>A	ENSP00000509593.2:n.*432T>A
ENST00000699585.1:c.3579T>A	ENSP00000514456.1:p.Thr1193=
ENST00000699598.1:c.3779T>A	ENSP00000514467.1:p.Leu1260Gln
ENST00000699599.1:c.3779T>A	ENSP00000514468.1:p.Leu1260Gln
ENST00000699600.1:c.*440T>A	ENSP00000514469.1:n.*440T>A
ENST00000699601.1:c.*2154T>A	ENSP00000514470.1:n.*2154T>A
ENST00000699602.1:c.3773T>A	ENSP00000514471.1:p.Leu1258Gln
ENST00000699604.1:c.*3603T>A	ENSP00000514472.1:n.*3603T>A
ENST00000699605.1:c.3353T>A	ENSP00000514473.1:p.Leu1118Gln
ENST00000685018.1:c.527T>A	ENSP00000510194.1:p.Leu176Gln
ENST00000687278.1:c.1566T>A	ENSP00000509593.1:n.1566T>A
ENST00000689011.1:c.361T>A
ENST00000003084.11:c.3779T>A MANE Select	ENSP00000003084.6:p.Leu1260Gln
ENST00000647720.1:c.1229T>A
ENST00000649781.1:c.3596T>A	ENSP00000497203.1:p.Leu1199Gln
ENST00000003084.10:c.3779T>A	ENSP00000003084.6:p.Leu1260Gln
ENST00000426809.5:c.3689T>A	ENSP00000389119.1:p.Leu1230Gln
NM_000492.3:c.3779T>A , LRG_663t1:c.3779T>A	NP_000483.3:p.Leu1260Gln
XM_011515751.1:c.3869T>A	XP_011514053.1:p.Leu1290Gln
XM_011515752.1:c.3869T>A	XP_011514054.1:p.Leu1290Gln
XM_011515753.1:c.3536T>A	XP_011514055.1:p.Leu1179Gln
XM_011515754.1:c.3536T>A	XP_011514056.1:p.Leu1179Gln
NM_000492.4:c.3779T>A MANE Select	NP_000483.3:p.Leu1260Gln