Canonical Allele Identifier: CA457228048

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243826G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603772G>T , CM000669.2:g.117603772G>T	GRCh38
NC_000007.13:g.117243826G>T , CM000669.1:g.117243826G>T	GRCh37
NC_000007.12:g.117031062G>T	NCBI36
NG_016465.4:g.142989G>T , LRG_663:g.142989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2898G>T	ENSP00000497673.2:p.Thr966=
ENST00000647978.2:c.*2612G>T	ENSP00000497658.1:n.*2612G>T
ENST00000649781.2:c.2715G>T	ENSP00000497203.1:p.Thr905=
ENST00000685018.2:c.2898G>T	ENSP00000510194.2:p.Thr966=
ENST00000687278.2:c.2898G>T	ENSP00000509593.2:p.Thr966=
ENST00000699585.1:c.2898G>T	ENSP00000514456.1:p.Thr966=
ENST00000699598.1:c.2898G>T	ENSP00000514467.1:p.Thr966=
ENST00000699599.1:c.2898G>T	ENSP00000514468.1:p.Thr966=
ENST00000699600.1:c.2898G>T	ENSP00000514469.1:p.Thr966=
ENST00000699601.1:c.*1198G>T	ENSP00000514470.1:n.*1198G>T
ENST00000699602.1:c.2898G>T	ENSP00000514471.1:p.Thr966=
ENST00000699604.1:c.*2722G>T	ENSP00000514472.1:n.*2722G>T
ENST00000699605.1:c.2472G>T	ENSP00000514473.1:p.Thr824=
ENST00000687278.1:c.489G>T	ENSP00000509593.1:p.Thr163=
ENST00000003084.11:c.2898G>T MANE Select	ENSP00000003084.6:p.Thr966=
ENST00000647720.1:c.548G>T
ENST00000648260.1:c.1680G>T	ENSP00000497957.1:p.Thr560=
ENST00000649406.1:c.2715G>T	ENSP00000497965.1:p.Thr905=
ENST00000649781.1:c.2715G>T	ENSP00000497203.1:p.Thr905=
ENST00000003084.10:c.2898G>T	ENSP00000003084.6:p.Thr966=
ENST00000426809.5:c.2808G>T	ENSP00000389119.1:p.Thr936=
NM_000492.3:c.2898G>T , LRG_663t1:c.2898G>T	NP_000483.3:p.Thr966=
XM_011515751.1:c.2988G>T	XP_011514053.1:p.Thr996=
XM_011515752.1:c.2988G>T	XP_011514054.1:p.Thr996=
XM_011515753.1:c.2655G>T	XP_011514055.1:p.Thr885=
XM_011515754.1:c.2655G>T	XP_011514056.1:p.Thr885=
NM_000492.4:c.2898G>T MANE Select	NP_000483.3:p.Thr966=