Canonical Allele Identifier: CA368984383

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306968G>A (hg19) ; chr7:g.117666914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666914G>A , CM000669.2:g.117666914G>A	GRCh38
NC_000007.13:g.117306968G>A , CM000669.1:g.117306968G>A	GRCh37
NC_000007.12:g.117094204G>A	NCBI36
NG_016465.4:g.206131G>A , LRG_663:g.206131G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*458G>A	ENSP00000497673.2:n.*458G>A
ENST00000647978.2:c.*3963G>A	ENSP00000497658.1:n.*3963G>A
ENST00000649781.2:c.4066G>A	ENSP00000497203.1:p.Glu1356Lys
ENST00000685018.2:c.*462G>A	ENSP00000510194.2:n.*462G>A
ENST00000687278.2:c.*896-688G>A	ENSP00000509593.2:n.*896-688G>A
ENST00000699585.1:c.*718G>A	ENSP00000514456.1:n.*718G>A
ENST00000699598.1:c.4243-1G>A	ENSP00000514467.1:n.4243-1G>A
ENST00000699599.1:c.*462G>A	ENSP00000514468.1:n.*462G>A
ENST00000699600.1:c.*904-688G>A	ENSP00000514469.1:n.*904-688G>A
ENST00000699601.1:c.*2624G>A	ENSP00000514470.1:n.*2624G>A
ENST00000699602.1:c.4243G>A	ENSP00000514471.1:p.Glu1415Lys
ENST00000699604.1:c.*4073G>A	ENSP00000514472.1:n.*4073G>A
ENST00000699605.1:c.3823G>A	ENSP00000514473.1:p.Glu1275Lys
ENST00000699606.1:n.3760G>A
ENST00000685018.1:c.1113G>A	ENSP00000510194.1:n.1113G>A
ENST00000687278.1:c.2030-688G>A	ENSP00000509593.1:n.2030-688G>A
ENST00000689011.1:c.1091G>A
ENST00000003084.11:c.4249G>A MANE Select	ENSP00000003084.6:p.Glu1417Lys
ENST00000647720.1:c.1699G>A
ENST00000649781.1:c.4066G>A	ENSP00000497203.1:p.Glu1356Lys
ENST00000003084.10:c.4249G>A	ENSP00000003084.6:p.Glu1417Lys
ENST00000426809.5:c.4159G>A	ENSP00000389119.1:p.Glu1387Lys
ENST00000600166.1:c.368+1350G>A
NM_000492.3:c.4249G>A , LRG_663t1:c.4249G>A	NP_000483.3:p.Glu1417Lys
XM_011515751.1:c.4339G>A	XP_011514053.1:p.Glu1447Lys
XM_011515753.1:c.4006G>A	XP_011514055.1:p.Glu1336Lys
XM_011515754.1:c.4006G>A	XP_011514056.1:p.Glu1336Lys
NM_000492.4:c.4249G>A MANE Select	NP_000483.3:p.Glu1417Lys