Canonical Allele Identifier: CA368993265

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254670A>T (hg19) ; chr7:g.117614616A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614616A>T , CM000669.2:g.117614616A>T	GRCh38
NC_000007.13:g.117254670A>T , CM000669.1:g.117254670A>T	GRCh37
NC_000007.12:g.117041906A>T	NCBI36
NG_016465.4:g.153833A>T , LRG_663:g.153833A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3371A>T	ENSP00000497673.2:p.Glu1124Val
ENST00000647978.2:c.*3085A>T	ENSP00000497658.1:n.*3085A>T
ENST00000649781.2:c.3188A>T	ENSP00000497203.1:p.Glu1063Val
ENST00000685018.2:c.3371A>T	ENSP00000510194.2:p.Glu1124Val
ENST00000687278.2:c.3371A>T	ENSP00000509593.2:p.Glu1124Val
ENST00000699585.1:c.3371A>T	ENSP00000514456.1:p.Glu1124Val
ENST00000699598.1:c.3371A>T	ENSP00000514467.1:p.Glu1124Val
ENST00000699599.1:c.3371A>T	ENSP00000514468.1:p.Glu1124Val
ENST00000699600.1:c.3371A>T	ENSP00000514469.1:p.Glu1124Val
ENST00000699601.1:c.*1746A>T	ENSP00000514470.1:n.*1746A>T
ENST00000699602.1:c.3368-3A>T	ENSP00000514471.1:n.3368-3A>T
ENST00000699604.1:c.*3195A>T	ENSP00000514472.1:n.*3195A>T
ENST00000699605.1:c.2945A>T	ENSP00000514473.1:p.Glu982Val
ENST00000685018.1:c.119A>T	ENSP00000510194.1:p.Glu40Val
ENST00000687278.1:c.962A>T	ENSP00000509593.1:p.Glu321Val
ENST00000003084.11:c.3371A>T MANE Select	ENSP00000003084.6:p.Glu1124Val
ENST00000647720.1:c.1021A>T
ENST00000648260.1:c.2153A>T	ENSP00000497957.1:p.Glu718Val
ENST00000649406.1:c.3188A>T	ENSP00000497965.1:p.Glu1063Val
ENST00000649781.1:c.3188A>T	ENSP00000497203.1:p.Glu1063Val
ENST00000003084.10:c.3371A>T	ENSP00000003084.6:p.Glu1124Val
ENST00000426809.5:c.3281A>T	ENSP00000389119.1:p.Glu1094Val
ENST00000468795.1:c.196A>T
NM_000492.3:c.3371A>T , LRG_663t1:c.3371A>T	NP_000483.3:p.Glu1124Val
XM_011515751.1:c.3461A>T	XP_011514053.1:p.Glu1154Val
XM_011515752.1:c.3461A>T	XP_011514054.1:p.Glu1154Val
XM_011515753.1:c.3128A>T	XP_011514055.1:p.Glu1043Val
XM_011515754.1:c.3128A>T	XP_011514056.1:p.Glu1043Val
NM_000492.4:c.3371A>T MANE Select	NP_000483.3:p.Glu1124Val