Canonical Allele Identifier: CA368983337

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305521A>G (hg19) ; chr7:g.117665467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665467A>G , CM000669.2:g.117665467A>G	GRCh38
NC_000007.13:g.117305521A>G , CM000669.1:g.117305521A>G	GRCh37
NC_000007.12:g.117092757A>G	NCBI36
NG_016465.4:g.204684A>G , LRG_663:g.204684A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*354A>G	ENSP00000497673.2:n.*354A>G
ENST00000647978.2:c.*3859A>G	ENSP00000497658.1:n.*3859A>G
ENST00000649781.2:c.3962A>G	ENSP00000497203.1:p.Gln1321Arg
ENST00000685018.2:c.*358A>G	ENSP00000510194.2:n.*358A>G
ENST00000687278.2:c.*798A>G	ENSP00000509593.2:n.*798A>G
ENST00000699585.1:c.*354A>G	ENSP00000514456.1:n.*354A>G
ENST00000699598.1:c.4145A>G	ENSP00000514467.1:p.Gln1382Arg
ENST00000699599.1:c.*358A>G	ENSP00000514468.1:n.*358A>G
ENST00000699600.1:c.*806A>G	ENSP00000514469.1:n.*806A>G
ENST00000699601.1:c.*2520A>G	ENSP00000514470.1:n.*2520A>G
ENST00000699602.1:c.4139A>G	ENSP00000514471.1:p.Gln1380Arg
ENST00000699604.1:c.*3969A>G	ENSP00000514472.1:n.*3969A>G
ENST00000699605.1:c.3719A>G	ENSP00000514473.1:p.Gln1240Arg
ENST00000699606.1:n.2313A>G
ENST00000685018.1:c.1009A>G	ENSP00000510194.1:n.1009A>G
ENST00000687278.1:c.1932A>G	ENSP00000509593.1:n.1932A>G
ENST00000689011.1:c.727A>G
ENST00000003084.11:c.4145A>G MANE Select	ENSP00000003084.6:p.Gln1382Arg
ENST00000647720.1:c.1595A>G
ENST00000649781.1:c.3962A>G	ENSP00000497203.1:p.Gln1321Arg
ENST00000003084.10:c.4145A>G	ENSP00000003084.6:p.Gln1382Arg
ENST00000426809.5:c.4055A>G	ENSP00000389119.1:p.Gln1352Arg
ENST00000600166.1:c.271A>G
NM_000492.3:c.4145A>G , LRG_663t1:c.4145A>G	NP_000483.3:p.Gln1382Arg
XM_011515751.1:c.4235A>G	XP_011514053.1:p.Gln1412Arg
XM_011515752.1:c.4235A>G	XP_011514054.1:p.Gln1412Arg
XM_011515753.1:c.3902A>G	XP_011514055.1:p.Gln1301Arg
XM_011515754.1:c.3902A>G	XP_011514056.1:p.Gln1301Arg
NM_000492.4:c.4145A>G MANE Select	NP_000483.3:p.Gln1382Arg