Canonical Allele Identifier: CA368974904

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282564G>C (hg19) ; chr7:g.117642510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642510G>C , CM000669.2:g.117642510G>C	GRCh38
NC_000007.13:g.117282564G>C , CM000669.1:g.117282564G>C	GRCh37
NC_000007.12:g.117069800G>C	NCBI36
NG_016465.4:g.181727G>C , LRG_663:g.181727G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3590G>C	ENSP00000497673.2:p.Ter1197Ser
ENST00000647978.2:c.*3504G>C	ENSP00000497658.1:n.*3504G>C
ENST00000649781.2:c.3607G>C	ENSP00000497203.1:p.Glu1203Gln
ENST00000685018.2:c.3790G>C	ENSP00000510194.2:p.Glu1264Gln
ENST00000687278.2:c.*443G>C	ENSP00000509593.2:n.*443G>C
ENST00000699585.1:c.3590G>C	ENSP00000514456.1:p.Ter1197Ser
ENST00000699598.1:c.3790G>C	ENSP00000514467.1:p.Glu1264Gln
ENST00000699599.1:c.3790G>C	ENSP00000514468.1:p.Glu1264Gln
ENST00000699600.1:c.*451G>C	ENSP00000514469.1:n.*451G>C
ENST00000699601.1:c.*2165G>C	ENSP00000514470.1:n.*2165G>C
ENST00000699602.1:c.3784G>C	ENSP00000514471.1:p.Glu1262Gln
ENST00000699604.1:c.*3614G>C	ENSP00000514472.1:n.*3614G>C
ENST00000699605.1:c.3364G>C	ENSP00000514473.1:p.Glu1122Gln
ENST00000685018.1:c.538G>C	ENSP00000510194.1:p.Glu180Gln
ENST00000687278.1:c.1577G>C	ENSP00000509593.1:n.1577G>C
ENST00000689011.1:c.372G>C
ENST00000003084.11:c.3790G>C MANE Select	ENSP00000003084.6:p.Glu1264Gln
ENST00000647720.1:c.1240G>C
ENST00000649781.1:c.3607G>C	ENSP00000497203.1:p.Glu1203Gln
ENST00000003084.10:c.3790G>C	ENSP00000003084.6:p.Glu1264Gln
ENST00000426809.5:c.3700G>C	ENSP00000389119.1:p.Glu1234Gln
NM_000492.3:c.3790G>C , LRG_663t1:c.3790G>C	NP_000483.3:p.Glu1264Gln
XM_011515751.1:c.3880G>C	XP_011514053.1:p.Glu1294Gln
XM_011515752.1:c.3880G>C	XP_011514054.1:p.Glu1294Gln
XM_011515753.1:c.3547G>C	XP_011514055.1:p.Glu1183Gln
XM_011515754.1:c.3547G>C	XP_011514056.1:p.Glu1183Gln
NM_000492.4:c.3790G>C MANE Select	NP_000483.3:p.Glu1264Gln