Canonical Allele Identifier: CA4451674

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666892A>G , CM000669.2:g.117666892A>G	GRCh38
NC_000007.13:g.117306946A>G , CM000669.1:g.117306946A>G	GRCh37
NC_000007.12:g.117094182A>G	NCBI36
NG_016465.4:g.206109A>G , LRG_663:g.206109A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4243-16A>G MANE Select	NP_000483.3:n.4243-16A>G
ENST00000003084.11:c.4243-16A>G MANE Select	ENSP00000003084.6:n.4243-16A>G
NM_000492.3:c.4243-16A>G , LRG_663t1:c.4243-16A>G	NP_000483.3:n.4243-16A>G
ENST00000003084.10:c.4243-16A>G	ENSP00000003084.6:n.4243-16A>G
ENST00000426809.5:c.4153-16A>G	ENSP00000389119.1:n.4153-16A>G
ENST00000600166.1:c.368+1328A>G
ENST00000647720.1:c.1693-16A>G
ENST00000647720.2:c.*452-16A>G	ENSP00000497673.2:n.*452-16A>G
ENST00000647978.2:c.*3957-16A>G	ENSP00000497658.1:n.*3957-16A>G
ENST00000649781.1:c.4060-16A>G	ENSP00000497203.1:n.4060-16A>G
ENST00000649781.2:c.4060-16A>G	ENSP00000497203.1:n.4060-16A>G
ENST00000685018.1:c.1107-16A>G	ENSP00000510194.1:n.1107-16A>G
ENST00000685018.2:c.*456-16A>G	ENSP00000510194.2:n.*456-16A>G
ENST00000687278.1:c.2030-710A>G	ENSP00000509593.1:n.2030-710A>G
ENST00000687278.2:c.*896-710A>G	ENSP00000509593.2:n.*896-710A>G
ENST00000689011.1:c.1069A>G
ENST00000699585.1:c.*696A>G	ENSP00000514456.1:n.*696A>G
ENST00000699598.1:c.4243-23A>G	ENSP00000514467.1:n.4243-23A>G
ENST00000699599.1:c.*456-16A>G	ENSP00000514468.1:n.*456-16A>G
ENST00000699600.1:c.*904-710A>G	ENSP00000514469.1:n.*904-710A>G
ENST00000699601.1:c.*2618-16A>G	ENSP00000514470.1:n.*2618-16A>G
ENST00000699602.1:c.4237-16A>G	ENSP00000514471.1:n.4237-16A>G
ENST00000699604.1:c.*4067-16A>G	ENSP00000514472.1:n.*4067-16A>G
ENST00000699605.1:c.3817-16A>G	ENSP00000514473.1:n.3817-16A>G
ENST00000699606.1:n.3738A>G
XM_011515751.1:c.4333-16A>G	XP_011514053.1:n.4333-16A>G
XM_011515753.1:c.4000-16A>G	XP_011514055.1:n.4000-16A>G
XM_011515754.1:c.4000-16A>G	XP_011514056.1:n.4000-16A>G