Canonical Allele Identifier: CA368975398

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282613A>G (hg19) ; chr7:g.117642559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642559A>G , CM000669.2:g.117642559A>G	GRCh38
NC_000007.13:g.117282613A>G , CM000669.1:g.117282613A>G	GRCh37
NC_000007.12:g.117069849A>G	NCBI36
NG_016465.4:g.181776A>G , LRG_663:g.181776A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*48A>G	ENSP00000497673.2:n.*48A>G
ENST00000647978.2:c.*3553A>G	ENSP00000497658.1:n.*3553A>G
ENST00000649781.2:c.3656A>G	ENSP00000497203.1:p.Gln1219Arg
ENST00000685018.2:c.3839A>G	ENSP00000510194.2:p.Gln1280Arg
ENST00000687278.2:c.*492A>G	ENSP00000509593.2:n.*492A>G
ENST00000699585.1:c.*48A>G	ENSP00000514456.1:n.*48A>G
ENST00000699598.1:c.3839A>G	ENSP00000514467.1:p.Gln1280Arg
ENST00000699599.1:c.3839A>G	ENSP00000514468.1:p.Gln1280Arg
ENST00000699600.1:c.*500A>G	ENSP00000514469.1:n.*500A>G
ENST00000699601.1:c.*2214A>G	ENSP00000514470.1:n.*2214A>G
ENST00000699602.1:c.3833A>G	ENSP00000514471.1:p.Gln1278Arg
ENST00000699604.1:c.*3663A>G	ENSP00000514472.1:n.*3663A>G
ENST00000699605.1:c.3413A>G	ENSP00000514473.1:p.Gln1138Arg
ENST00000685018.1:c.587A>G	ENSP00000510194.1:p.Gln196Arg
ENST00000687278.1:c.1626A>G	ENSP00000509593.1:n.1626A>G
ENST00000689011.1:c.421A>G
ENST00000003084.11:c.3839A>G MANE Select	ENSP00000003084.6:p.Gln1280Arg
ENST00000647720.1:c.1289A>G
ENST00000649781.1:c.3656A>G	ENSP00000497203.1:p.Gln1219Arg
ENST00000003084.10:c.3839A>G	ENSP00000003084.6:p.Gln1280Arg
ENST00000426809.5:c.3749A>G	ENSP00000389119.1:p.Gln1250Arg
NM_000492.3:c.3839A>G , LRG_663t1:c.3839A>G	NP_000483.3:p.Gln1280Arg
XM_011515751.1:c.3929A>G	XP_011514053.1:p.Gln1310Arg
XM_011515752.1:c.3929A>G	XP_011514054.1:p.Gln1310Arg
XM_011515753.1:c.3596A>G	XP_011514055.1:p.Gln1199Arg
XM_011515754.1:c.3596A>G	XP_011514056.1:p.Gln1199Arg
NM_000492.4:c.3839A>G MANE Select	NP_000483.3:p.Gln1280Arg