Canonical Allele Identifier: CA368983734

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305590A>T (hg19) ; chr7:g.117665536A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665536A>T , CM000669.2:g.117665536A>T	GRCh38
NC_000007.13:g.117305590A>T , CM000669.1:g.117305590A>T	GRCh37
NC_000007.12:g.117092826A>T	NCBI36
NG_016465.4:g.204753A>T , LRG_663:g.204753A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*423A>T	ENSP00000497673.2:n.*423A>T
ENST00000647978.2:c.*3928A>T	ENSP00000497658.1:n.*3928A>T
ENST00000649781.2:c.4031A>T	ENSP00000497203.1:p.Glu1344Val
ENST00000685018.2:c.*427A>T	ENSP00000510194.2:n.*427A>T
ENST00000687278.2:c.*867A>T	ENSP00000509593.2:n.*867A>T
ENST00000699585.1:c.*423A>T	ENSP00000514456.1:n.*423A>T
ENST00000699598.1:c.4214A>T	ENSP00000514467.1:p.Glu1405Val
ENST00000699599.1:c.*427A>T	ENSP00000514468.1:n.*427A>T
ENST00000699600.1:c.*875A>T	ENSP00000514469.1:n.*875A>T
ENST00000699601.1:c.*2589A>T	ENSP00000514470.1:n.*2589A>T
ENST00000699602.1:c.4208A>T	ENSP00000514471.1:p.Glu1403Val
ENST00000699604.1:c.*4038A>T	ENSP00000514472.1:n.*4038A>T
ENST00000699605.1:c.3788A>T	ENSP00000514473.1:p.Glu1263Val
ENST00000699606.1:n.2382A>T
ENST00000685018.1:c.1078A>T	ENSP00000510194.1:n.1078A>T
ENST00000687278.1:c.2001A>T	ENSP00000509593.1:n.2001A>T
ENST00000689011.1:c.796A>T
ENST00000003084.11:c.4214A>T MANE Select	ENSP00000003084.6:p.Glu1405Val
ENST00000647720.1:c.1664A>T
ENST00000649781.1:c.4031A>T	ENSP00000497203.1:p.Glu1344Val
ENST00000003084.10:c.4214A>T	ENSP00000003084.6:p.Glu1405Val
ENST00000426809.5:c.4124A>T	ENSP00000389119.1:p.Glu1375Val
ENST00000600166.1:c.340A>T
NM_000492.3:c.4214A>T , LRG_663t1:c.4214A>T	NP_000483.3:p.Glu1405Val
XM_011515751.1:c.4304A>T	XP_011514053.1:p.Glu1435Val
XM_011515752.1:c.4304A>T	XP_011514054.1:p.Glu1435Val
XM_011515753.1:c.3971A>T	XP_011514055.1:p.Glu1324Val
XM_011515754.1:c.3971A>T	XP_011514056.1:p.Glu1324Val
NM_000492.4:c.4214A>T MANE Select	NP_000483.3:p.Glu1405Val