Canonical Allele Identifier: CA368984416

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1772665
• ClinVar RCV Id: RCV002394321
• MyVariant Identifiers: chr7:g.117199564G>T (hg19) ; chr7:g.117559510G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559510G>T , CM000669.2:g.117559510G>T	GRCh38
NC_000007.13:g.117199564G>T , CM000669.1:g.117199564G>T	GRCh37
NC_000007.12:g.116986800G>T	NCBI36
NG_016465.4:g.98727G>T , LRG_663:g.98727G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1439G>T (CFTR)	ENSP00000497673.2:p.Gly480Val
ENST00000647978.2:c.*1153G>T (CFTR)	ENSP00000497658.1:n.*1153G>T
ENST00000649781.2:c.1256G>T (CFTR)	ENSP00000497203.1:p.Gly419Val
ENST00000685018.2:c.1439G>T (CFTR)	ENSP00000510194.2:p.Gly480Val
ENST00000687278.2:c.1439G>T (CFTR)	ENSP00000509593.2:p.Gly480Val
ENST00000699585.1:c.1439G>T (CFTR)	ENSP00000514456.1:p.Gly480Val
ENST00000699596.1:c.1439G>T (CFTR)	ENSP00000514465.1:p.Gly480Val
ENST00000699597.1:c.1434G>T (CFTR)	ENSP00000514466.1:p.Gly478=
ENST00000699598.1:c.1439G>T (CFTR)	ENSP00000514467.1:p.Gly480Val
ENST00000699599.1:c.1439G>T (CFTR)	ENSP00000514468.1:p.Gly480Val
ENST00000699600.1:c.1439G>T (CFTR)	ENSP00000514469.1:p.Gly480Val
ENST00000699601.1:c.1439G>T (CFTR)	ENSP00000514470.1:p.Gly480Val
ENST00000699602.1:c.1439G>T (CFTR)	ENSP00000514471.1:p.Gly480Val
ENST00000699604.1:c.*1263G>T (CFTR)	ENSP00000514472.1:n.*1263G>T
ENST00000699605.1:c.1013G>T (CFTR)	ENSP00000514473.1:p.Gly338Val
ENST00000003084.11:c.1439G>T (CFTR) MANE Select	ENSP00000003084.6:p.Gly480Val
ENST00000647978.1:c.*1153G>T (CFTR)	ENSP00000497658.1:n.*1153G>T
ENST00000648260.1:c.1256G>T (CFTR)	ENSP00000497957.1:p.Gly419Val
ENST00000649406.1:c.1256G>T (CFTR)	ENSP00000497965.1:p.Gly419Val
ENST00000649781.1:c.1256G>T (CFTR)	ENSP00000497203.1:p.Gly419Val
ENST00000003084.10:c.1439G>T (CFTR)	ENSP00000003084.6:p.Gly480Val
ENST00000426809.5:c.1349G>T (CFTR)	ENSP00000389119.1:p.Gly450Val
NM_000492.3:c.1439G>T , LRG_663t1:c.1439G>T (CFTR)	NP_000483.3:p.Gly480Val
XM_011515751.1:c.1529G>T (CFTR)	XP_011514053.1:p.Gly510Val
XM_011515752.1:c.1529G>T (CFTR)	XP_011514054.1:p.Gly510Val
XM_011515753.1:c.1196G>T (CFTR)	XP_011514055.1:p.Gly399Val
XM_011515754.1:c.1196G>T (CFTR)	XP_011514056.1:p.Gly399Val
NR_149084.1:n.221+1223C>A (CFTR-AS1)
NM_000492.4:c.1439G>T (CFTR) MANE Select	NP_000483.3:p.Gly480Val