Canonical Allele Identifier: CA4451708

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667098C>G , CM000669.2:g.117667098C>G	GRCh38
NC_000007.13:g.117307152C>G , CM000669.1:g.117307152C>G	GRCh37
NC_000007.12:g.117094388C>G	NCBI36
NG_016465.4:g.206315C>G , LRG_663:g.206315C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4433C>G MANE Select	NP_000483.3:p.Thr1478Arg
ENST00000003084.11:c.4433C>G MANE Select	ENSP00000003084.6:p.Thr1478Arg
NM_000492.3:c.4433C>G , LRG_663t1:c.4433C>G	NP_000483.3:p.Thr1478Arg
ENST00000003084.10:c.4433C>G	ENSP00000003084.6:p.Thr1478Arg
ENST00000600166.1:c.368+1534C>G
ENST00000647720.1:c.1883C>G
ENST00000647720.2:c.*642C>G	ENSP00000497673.2:n.*642C>G
ENST00000647978.2:c.*4147C>G	ENSP00000497658.1:n.*4147C>G
ENST00000649781.1:c.4250C>G	ENSP00000497203.1:p.Thr1417Arg
ENST00000649781.2:c.4250C>G	ENSP00000497203.1:p.Thr1417Arg
ENST00000685018.1:c.1297C>G	ENSP00000510194.1:n.1297C>G
ENST00000685018.2:c.*646C>G	ENSP00000510194.2:n.*646C>G
ENST00000687278.1:c.2030-504C>G	ENSP00000509593.1:n.2030-504C>G
ENST00000687278.2:c.*896-504C>G	ENSP00000509593.2:n.*896-504C>G
ENST00000689011.1:c.1275C>G
ENST00000699585.1:c.*902C>G	ENSP00000514456.1:n.*902C>G
ENST00000699598.1:c.*139C>G	ENSP00000514467.1:n.*139C>G
ENST00000699599.1:c.*646C>G	ENSP00000514468.1:n.*646C>G
ENST00000699600.1:c.*904-504C>G	ENSP00000514469.1:n.*904-504C>G
ENST00000699601.1:c.*2808C>G	ENSP00000514470.1:n.*2808C>G
ENST00000699602.1:c.4427C>G	ENSP00000514471.1:p.Thr1476Arg
ENST00000699604.1:c.*4257C>G	ENSP00000514472.1:n.*4257C>G
ENST00000699605.1:c.4007C>G	ENSP00000514473.1:p.Thr1336Arg
ENST00000699606.1:n.3944C>G
XM_011515751.1:c.4523C>G	XP_011514053.1:p.Thr1508Arg
XM_011515753.1:c.4190C>G	XP_011514055.1:p.Thr1397Arg
XM_011515754.1:c.4190C>G	XP_011514056.1:p.Thr1397Arg