Canonical Allele Identifier: CA368986915

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243728G>T (hg19) ; chr7:g.117603674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603674G>T , CM000669.2:g.117603674G>T	GRCh38
NC_000007.13:g.117243728G>T , CM000669.1:g.117243728G>T	GRCh37
NC_000007.12:g.117030964G>T	NCBI36
NG_016465.4:g.142891G>T , LRG_663:g.142891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2800G>T	ENSP00000497673.2:p.Gly934Cys
ENST00000647978.2:c.*2514G>T	ENSP00000497658.1:n.*2514G>T
ENST00000649781.2:c.2617G>T	ENSP00000497203.1:p.Gly873Cys
ENST00000685018.2:c.2800G>T	ENSP00000510194.2:p.Gly934Cys
ENST00000687278.2:c.2800G>T	ENSP00000509593.2:p.Gly934Cys
ENST00000699585.1:c.2800G>T	ENSP00000514456.1:p.Gly934Cys
ENST00000699598.1:c.2800G>T	ENSP00000514467.1:p.Gly934Cys
ENST00000699599.1:c.2800G>T	ENSP00000514468.1:p.Gly934Cys
ENST00000699600.1:c.2800G>T	ENSP00000514469.1:p.Gly934Cys
ENST00000699601.1:c.*1100G>T	ENSP00000514470.1:n.*1100G>T
ENST00000699602.1:c.2800G>T	ENSP00000514471.1:p.Gly934Cys
ENST00000699604.1:c.*2624G>T	ENSP00000514472.1:n.*2624G>T
ENST00000699605.1:c.2374G>T	ENSP00000514473.1:p.Gly792Cys
ENST00000687278.1:c.391G>T	ENSP00000509593.1:p.Gly131Cys
ENST00000003084.11:c.2800G>T MANE Select	ENSP00000003084.6:p.Gly934Cys
ENST00000647720.1:c.450G>T
ENST00000648260.1:c.1582G>T	ENSP00000497957.1:p.Gly528Cys
ENST00000649406.1:c.2617G>T	ENSP00000497965.1:p.Gly873Cys
ENST00000649781.1:c.2617G>T	ENSP00000497203.1:p.Gly873Cys
ENST00000003084.10:c.2800G>T	ENSP00000003084.6:p.Gly934Cys
ENST00000426809.5:c.2710G>T	ENSP00000389119.1:p.Gly904Cys
NM_000492.3:c.2800G>T , LRG_663t1:c.2800G>T	NP_000483.3:p.Gly934Cys
XM_011515751.1:c.2890G>T	XP_011514053.1:p.Gly964Cys
XM_011515752.1:c.2890G>T	XP_011514054.1:p.Gly964Cys
XM_011515753.1:c.2557G>T	XP_011514055.1:p.Gly853Cys
XM_011515754.1:c.2557G>T	XP_011514056.1:p.Gly853Cys
NM_000492.4:c.2800G>T MANE Select	NP_000483.3:p.Gly934Cys