Canonical Allele Identifier: CA368975028

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282576C>A (hg19) ; chr7:g.117642522C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642522C>A , CM000669.2:g.117642522C>A	GRCh38
NC_000007.13:g.117282576C>A , CM000669.1:g.117282576C>A	GRCh37
NC_000007.12:g.117069812C>A	NCBI36
NG_016465.4:g.181739C>A , LRG_663:g.181739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*11C>A	ENSP00000497673.2:n.*11C>A
ENST00000647978.2:c.*3516C>A	ENSP00000497658.1:n.*3516C>A
ENST00000649781.2:c.3619C>A	ENSP00000497203.1:p.Gln1207Lys
ENST00000685018.2:c.3802C>A	ENSP00000510194.2:p.Gln1268Lys
ENST00000687278.2:c.*455C>A	ENSP00000509593.2:n.*455C>A
ENST00000699585.1:c.*11C>A	ENSP00000514456.1:n.*11C>A
ENST00000699598.1:c.3802C>A	ENSP00000514467.1:p.Gln1268Lys
ENST00000699599.1:c.3802C>A	ENSP00000514468.1:p.Gln1268Lys
ENST00000699600.1:c.*463C>A	ENSP00000514469.1:n.*463C>A
ENST00000699601.1:c.*2177C>A	ENSP00000514470.1:n.*2177C>A
ENST00000699602.1:c.3796C>A	ENSP00000514471.1:p.Gln1266Lys
ENST00000699604.1:c.*3626C>A	ENSP00000514472.1:n.*3626C>A
ENST00000699605.1:c.3376C>A	ENSP00000514473.1:p.Gln1126Lys
ENST00000685018.1:c.550C>A	ENSP00000510194.1:p.Gln184Lys
ENST00000687278.1:c.1589C>A	ENSP00000509593.1:n.1589C>A
ENST00000689011.1:c.384C>A
ENST00000003084.11:c.3802C>A MANE Select	ENSP00000003084.6:p.Gln1268Lys
ENST00000647720.1:c.1252C>A
ENST00000649781.1:c.3619C>A	ENSP00000497203.1:p.Gln1207Lys
ENST00000003084.10:c.3802C>A	ENSP00000003084.6:p.Gln1268Lys
ENST00000426809.5:c.3712C>A	ENSP00000389119.1:p.Gln1238Lys
NM_000492.3:c.3802C>A , LRG_663t1:c.3802C>A	NP_000483.3:p.Gln1268Lys
XM_011515751.1:c.3892C>A	XP_011514053.1:p.Gln1298Lys
XM_011515752.1:c.3892C>A	XP_011514054.1:p.Gln1298Lys
XM_011515753.1:c.3559C>A	XP_011514055.1:p.Gln1187Lys
XM_011515754.1:c.3559C>A	XP_011514056.1:p.Gln1187Lys
NM_000492.4:c.3802C>A MANE Select	NP_000483.3:p.Gln1268Lys