Canonical Allele Identifier: CA164960401

Gene: CFTR

Linked Data

• dbSNP Id: rs866721106
• MyVariant Identifiers: chr7:g.117243825del (hg19) ; chr7:g.117603771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603771del , CM000669.2:g.117603771del	GRCh38
NC_000007.13:g.117243825del , CM000669.1:g.117243825del	GRCh37
NC_000007.12:g.117031061del	NCBI36
NG_016465.4:g.142988del , LRG_663:g.142988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2897del	ENSP00000497673.2:p.Thr966SerfsTer2
ENST00000647978.2:c.*2611del	ENSP00000497658.1:n.*2611del
ENST00000649781.2:c.2714del	ENSP00000497203.1:p.Thr905SerfsTer2
ENST00000685018.2:c.2897del	ENSP00000510194.2:p.Thr966SerfsTer2
ENST00000687278.2:c.2897del	ENSP00000509593.2:p.Thr966SerfsTer2
ENST00000699585.1:c.2897del	ENSP00000514456.1:p.Thr966SerfsTer2
ENST00000699598.1:c.2897del	ENSP00000514467.1:p.Thr966SerfsTer2
ENST00000699599.1:c.2897del	ENSP00000514468.1:p.Thr966SerfsTer2
ENST00000699600.1:c.2897del	ENSP00000514469.1:p.Thr966SerfsTer2
ENST00000699601.1:c.*1197del	ENSP00000514470.1:n.*1197del
ENST00000699602.1:c.2897del	ENSP00000514471.1:p.Thr966SerfsTer2
ENST00000699604.1:c.*2721del	ENSP00000514472.1:n.*2721del
ENST00000699605.1:c.2471del	ENSP00000514473.1:p.Thr824SerfsTer2
ENST00000687278.1:c.488del	ENSP00000509593.1:p.Thr163SerfsTer2
ENST00000003084.11:c.2897del MANE Select	ENSP00000003084.6:p.Thr966SerfsTer2
ENST00000647720.1:c.547del
ENST00000648260.1:c.1679del	ENSP00000497957.1:p.Thr560SerfsTer2
ENST00000649406.1:c.2714del	ENSP00000497965.1:p.Thr905SerfsTer2
ENST00000649781.1:c.2714del	ENSP00000497203.1:p.Thr905SerfsTer2
ENST00000003084.10:c.2897del	ENSP00000003084.6:p.Thr966SerfsTer2
ENST00000426809.5:c.2807del	ENSP00000389119.1:p.Thr936SerfsTer2
NM_000492.3:c.2897del , LRG_663t1:c.2897del	NP_000483.3:p.Thr966SerfsTer2
XM_011515751.1:c.2987del	XP_011514053.1:p.Thr996SerfsTer2
XM_011515752.1:c.2987del	XP_011514054.1:p.Thr996SerfsTer2
XM_011515753.1:c.2654del	XP_011514055.1:p.Thr885SerfsTer2
XM_011515754.1:c.2654del	XP_011514056.1:p.Thr885SerfsTer2
NM_000492.4:c.2897del MANE Select	NP_000483.3:p.Thr966SerfsTer2