Canonical Allele Identifier: CA326484

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 53254
• ClinVar RCV Id: RCV000577421 ; RCV001753465 ; RCV001826611
• dbSNP Id: rs79282516
• MyVariant Identifiers: chr7:g.117199563G>A (hg19) ; chr7:g.117559509G>A (hg38)
• PubMed: PMID:20059485

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559509G>A , CM000669.2:g.117559509G>A	GRCh38
NC_000007.13:g.117199563G>A , CM000669.1:g.117199563G>A	GRCh37
NC_000007.12:g.116986799G>A	NCBI36
NG_016465.4:g.98726G>A , LRG_663:g.98726G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1438G>A (CFTR)	ENSP00000497673.2:p.Gly480Ser
ENST00000647978.2:c.*1152G>A (CFTR)	ENSP00000497658.1:n.*1152G>A
ENST00000649781.2:c.1255G>A (CFTR)	ENSP00000497203.1:p.Gly419Ser
ENST00000685018.2:c.1438G>A (CFTR)	ENSP00000510194.2:p.Gly480Ser
ENST00000687278.2:c.1438G>A (CFTR)	ENSP00000509593.2:p.Gly480Ser
ENST00000699585.1:c.1438G>A (CFTR)	ENSP00000514456.1:p.Gly480Ser
ENST00000699596.1:c.1438G>A (CFTR)	ENSP00000514465.1:p.Gly480Ser
ENST00000699597.1:c.1433G>A (CFTR)	ENSP00000514466.1:p.Gly478Glu
ENST00000699598.1:c.1438G>A (CFTR)	ENSP00000514467.1:p.Gly480Ser
ENST00000699599.1:c.1438G>A (CFTR)	ENSP00000514468.1:p.Gly480Ser
ENST00000699600.1:c.1438G>A (CFTR)	ENSP00000514469.1:p.Gly480Ser
ENST00000699601.1:c.1438G>A (CFTR)	ENSP00000514470.1:p.Gly480Ser
ENST00000699602.1:c.1438G>A (CFTR)	ENSP00000514471.1:p.Gly480Ser
ENST00000699604.1:c.*1262G>A (CFTR)	ENSP00000514472.1:n.*1262G>A
ENST00000699605.1:c.1012G>A (CFTR)	ENSP00000514473.1:p.Gly338Ser
ENST00000003084.11:c.1438G>A (CFTR) MANE Select	ENSP00000003084.6:p.Gly480Ser
ENST00000647978.1:c.*1152G>A (CFTR)	ENSP00000497658.1:n.*1152G>A
ENST00000648260.1:c.1255G>A (CFTR)	ENSP00000497957.1:p.Gly419Ser
ENST00000649406.1:c.1255G>A (CFTR)	ENSP00000497965.1:p.Gly419Ser
ENST00000649781.1:c.1255G>A (CFTR)	ENSP00000497203.1:p.Gly419Ser
ENST00000003084.10:c.1438G>A (CFTR)	ENSP00000003084.6:p.Gly480Ser
ENST00000426809.5:c.1348G>A (CFTR)	ENSP00000389119.1:p.Gly450Ser
NM_000492.3:c.1438G>A , LRG_663t1:c.1438G>A (CFTR)	NP_000483.3:p.Gly480Ser
XM_011515751.1:c.1528G>A (CFTR)	XP_011514053.1:p.Gly510Ser
XM_011515752.1:c.1528G>A (CFTR)	XP_011514054.1:p.Gly510Ser
XM_011515753.1:c.1195G>A (CFTR)	XP_011514055.1:p.Gly399Ser
XM_011515754.1:c.1195G>A (CFTR)	XP_011514056.1:p.Gly399Ser
NR_149084.1:n.221+1224C>T (CFTR-AS1)
NM_000492.4:c.1438G>A (CFTR) MANE Select	NP_000483.3:p.Gly480Ser