Canonical Allele Identifier: CA368983769

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305602A>C (hg19) ; chr7:g.117665548A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665548A>C , CM000669.2:g.117665548A>C	GRCh38
NC_000007.13:g.117305602A>C , CM000669.1:g.117305602A>C	GRCh37
NC_000007.12:g.117092838A>C	NCBI36
NG_016465.4:g.204765A>C , LRG_663:g.204765A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*435A>C	ENSP00000497673.2:n.*435A>C
ENST00000647978.2:c.*3940A>C	ENSP00000497658.1:n.*3940A>C
ENST00000649781.2:c.4043A>C	ENSP00000497203.1:p.Glu1348Ala
ENST00000685018.2:c.*439A>C	ENSP00000510194.2:n.*439A>C
ENST00000687278.2:c.*879A>C	ENSP00000509593.2:n.*879A>C
ENST00000699585.1:c.*435A>C	ENSP00000514456.1:n.*435A>C
ENST00000699598.1:c.4226A>C	ENSP00000514467.1:p.Glu1409Ala
ENST00000699599.1:c.*439A>C	ENSP00000514468.1:n.*439A>C
ENST00000699600.1:c.*887A>C	ENSP00000514469.1:n.*887A>C
ENST00000699601.1:c.*2601A>C	ENSP00000514470.1:n.*2601A>C
ENST00000699602.1:c.4220A>C	ENSP00000514471.1:p.Glu1407Ala
ENST00000699604.1:c.*4050A>C	ENSP00000514472.1:n.*4050A>C
ENST00000699605.1:c.3800A>C	ENSP00000514473.1:p.Glu1267Ala
ENST00000699606.1:n.2394A>C
ENST00000685018.1:c.1090A>C	ENSP00000510194.1:n.1090A>C
ENST00000687278.1:c.2013A>C	ENSP00000509593.1:n.2013A>C
ENST00000689011.1:c.808A>C
ENST00000003084.11:c.4226A>C MANE Select	ENSP00000003084.6:p.Glu1409Ala
ENST00000647720.1:c.1676A>C
ENST00000649781.1:c.4043A>C	ENSP00000497203.1:p.Glu1348Ala
ENST00000003084.10:c.4226A>C	ENSP00000003084.6:p.Glu1409Ala
ENST00000426809.5:c.4136A>C	ENSP00000389119.1:p.Glu1379Ala
ENST00000600166.1:c.352A>C
NM_000492.3:c.4226A>C , LRG_663t1:c.4226A>C	NP_000483.3:p.Glu1409Ala
XM_011515751.1:c.4316A>C	XP_011514053.1:p.Glu1439Ala
XM_011515752.1:c.4316A>C	XP_011514054.1:p.Glu1439Ala
XM_011515753.1:c.3983A>C	XP_011514055.1:p.Glu1328Ala
XM_011515754.1:c.3983A>C	XP_011514056.1:p.Glu1328Ala
NM_000492.4:c.4226A>C MANE Select	NP_000483.3:p.Glu1409Ala