Canonical Allele Identifier: CA326882

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603543A>G , CM000669.2:g.117603543A>G	GRCh38
NC_000007.13:g.117243597A>G , CM000669.1:g.117243597A>G	GRCh37
NC_000007.12:g.117030833A>G	NCBI36
NG_016465.4:g.142760A>G , LRG_663:g.142760A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2669A>G MANE Select	NP_000483.3:p.Gln890Arg
ENST00000003084.11:c.2669A>G MANE Select	ENSP00000003084.6:p.Gln890Arg
NM_000492.3:c.2669A>G , LRG_663t1:c.2669A>G	NP_000483.3:p.Gln890Arg
ENST00000003084.10:c.2669A>G	ENSP00000003084.6:p.Gln890Arg
ENST00000426809.5:c.2579A>G	ENSP00000389119.1:p.Gln860Arg
ENST00000647720.1:c.319A>G
ENST00000647720.2:c.2669A>G	ENSP00000497673.2:p.Gln890Arg
ENST00000647978.2:c.*2383A>G	ENSP00000497658.1:n.*2383A>G
ENST00000648260.1:c.1451A>G	ENSP00000497957.1:p.Gln484Arg
ENST00000649406.1:c.2486A>G	ENSP00000497965.1:p.Gln829Arg
ENST00000649781.1:c.2486A>G	ENSP00000497203.1:p.Gln829Arg
ENST00000649781.2:c.2486A>G	ENSP00000497203.1:p.Gln829Arg
ENST00000685018.2:c.2669A>G	ENSP00000510194.2:p.Gln890Arg
ENST00000687278.1:c.260A>G	ENSP00000509593.1:p.Gln87Arg
ENST00000687278.2:c.2669A>G	ENSP00000509593.2:p.Gln890Arg
ENST00000699585.1:c.2669A>G	ENSP00000514456.1:p.Gln890Arg
ENST00000699598.1:c.2669A>G	ENSP00000514467.1:p.Gln890Arg
ENST00000699599.1:c.2669A>G	ENSP00000514468.1:p.Gln890Arg
ENST00000699600.1:c.2669A>G	ENSP00000514469.1:p.Gln890Arg
ENST00000699601.1:c.*969A>G	ENSP00000514470.1:n.*969A>G
ENST00000699602.1:c.2669A>G	ENSP00000514471.1:p.Gln890Arg
ENST00000699604.1:c.*2493A>G	ENSP00000514472.1:n.*2493A>G
ENST00000699605.1:c.2243A>G	ENSP00000514473.1:p.Gln748Arg
XM_011515751.1:c.2759A>G	XP_011514053.1:p.Gln920Arg
XM_011515752.1:c.2759A>G	XP_011514054.1:p.Gln920Arg
XM_011515753.1:c.2426A>G	XP_011514055.1:p.Gln809Arg
XM_011515754.1:c.2426A>G	XP_011514056.1:p.Gln809Arg