Canonical Allele Identifier: CA368974983

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642516-G-A
• MyVariant Identifiers: chr7:g.117282570G>A (hg19) ; chr7:g.117642516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642516G>A , CM000669.2:g.117642516G>A	GRCh38
NC_000007.13:g.117282570G>A , CM000669.1:g.117282570G>A	GRCh37
NC_000007.12:g.117069806G>A	NCBI36
NG_016465.4:g.181733G>A , LRG_663:g.181733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*5G>A	ENSP00000497673.2:n.*5G>A
ENST00000647978.2:c.*3510G>A	ENSP00000497658.1:n.*3510G>A
ENST00000649781.2:c.3613G>A	ENSP00000497203.1:p.Glu1205Lys
ENST00000685018.2:c.3796G>A	ENSP00000510194.2:p.Glu1266Lys
ENST00000687278.2:c.*449G>A	ENSP00000509593.2:n.*449G>A
ENST00000699585.1:c.*5G>A	ENSP00000514456.1:n.*5G>A
ENST00000699598.1:c.3796G>A	ENSP00000514467.1:p.Glu1266Lys
ENST00000699599.1:c.3796G>A	ENSP00000514468.1:p.Glu1266Lys
ENST00000699600.1:c.*457G>A	ENSP00000514469.1:n.*457G>A
ENST00000699601.1:c.*2171G>A	ENSP00000514470.1:n.*2171G>A
ENST00000699602.1:c.3790G>A	ENSP00000514471.1:p.Glu1264Lys
ENST00000699604.1:c.*3620G>A	ENSP00000514472.1:n.*3620G>A
ENST00000699605.1:c.3370G>A	ENSP00000514473.1:p.Glu1124Lys
ENST00000685018.1:c.544G>A	ENSP00000510194.1:p.Glu182Lys
ENST00000687278.1:c.1583G>A	ENSP00000509593.1:n.1583G>A
ENST00000689011.1:c.378G>A
ENST00000003084.11:c.3796G>A MANE Select	ENSP00000003084.6:p.Glu1266Lys
ENST00000647720.1:c.1246G>A
ENST00000649781.1:c.3613G>A	ENSP00000497203.1:p.Glu1205Lys
ENST00000003084.10:c.3796G>A	ENSP00000003084.6:p.Glu1266Lys
ENST00000426809.5:c.3706G>A	ENSP00000389119.1:p.Glu1236Lys
NM_000492.3:c.3796G>A , LRG_663t1:c.3796G>A	NP_000483.3:p.Glu1266Lys
XM_011515751.1:c.3886G>A	XP_011514053.1:p.Glu1296Lys
XM_011515752.1:c.3886G>A	XP_011514054.1:p.Glu1296Lys
XM_011515753.1:c.3553G>A	XP_011514055.1:p.Glu1185Lys
XM_011515754.1:c.3553G>A	XP_011514056.1:p.Glu1185Lys
NM_000492.4:c.3796G>A MANE Select	NP_000483.3:p.Glu1266Lys