Canonical Allele Identifier: CA175542

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 35826
• ClinVar RCV Id: RCV000029479 ; RCV000150336 ; RCV000259423 ; RCV000755237 ; RCV001095254
• dbSNP Id: rs1800094
• ExAC: 7:117199706 A / G
• gnomAD v2: 7-117199706-A-G
• gnomAD v3: 7-117559652-A-G
• gnomAD v4: 7-117559652-A-G
• MyVariant Identifiers: chr7:g.117199706A>G (hg19) ; chr7:g.117559652A>G (hg38)
• PubMed: PMID:1376017 ; PMID:9067754 ; PMID:23381846

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559652A>G , CM000669.2:g.117559652A>G	GRCh38
NC_000007.13:g.117199706A>G , CM000669.1:g.117199706A>G	GRCh37
NC_000007.12:g.116986942A>G	NCBI36
NG_016465.4:g.98869A>G , LRG_663:g.98869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1581A>G (CFTR)	ENSP00000497673.2:p.Glu527=
ENST00000647978.2:c.*1295A>G (CFTR)	ENSP00000497658.1:n.*1295A>G
ENST00000649781.2:c.1398A>G (CFTR)	ENSP00000497203.1:p.Glu466=
ENST00000685018.2:c.1581A>G (CFTR)	ENSP00000510194.2:p.Glu527=
ENST00000687278.2:c.1581A>G (CFTR)	ENSP00000509593.2:p.Glu527=
ENST00000699585.1:c.1581A>G (CFTR)	ENSP00000514456.1:p.Glu527=
ENST00000699596.1:c.1581A>G (CFTR)	ENSP00000514465.1:p.Glu527=
ENST00000699597.1:c.*139A>G (CFTR)	ENSP00000514466.1:n.*139A>G
ENST00000699598.1:c.1581A>G (CFTR)	ENSP00000514467.1:p.Glu527=
ENST00000699599.1:c.1581A>G (CFTR)	ENSP00000514468.1:p.Glu527=
ENST00000699600.1:c.1581A>G (CFTR)	ENSP00000514469.1:p.Glu527=
ENST00000699601.1:c.1581A>G (CFTR)	ENSP00000514470.1:p.Glu527=
ENST00000699602.1:c.1581A>G (CFTR)	ENSP00000514471.1:p.Glu527=
ENST00000699604.1:c.*1405A>G (CFTR)	ENSP00000514472.1:n.*1405A>G
ENST00000699605.1:c.1155A>G (CFTR)	ENSP00000514473.1:p.Glu385=
ENST00000003084.11:c.1581A>G (CFTR) MANE Select	ENSP00000003084.6:p.Glu527=
ENST00000647978.1:c.*1295A>G (CFTR)	ENSP00000497658.1:n.*1295A>G
ENST00000648260.1:c.1398A>G (CFTR)	ENSP00000497957.1:p.Glu466=
ENST00000649406.1:c.1398A>G (CFTR)	ENSP00000497965.1:p.Glu466=
ENST00000649781.1:c.1398A>G (CFTR)	ENSP00000497203.1:p.Glu466=
ENST00000003084.10:c.1581A>G (CFTR)	ENSP00000003084.6:p.Glu527=
ENST00000426809.5:c.1491A>G (CFTR)	ENSP00000389119.1:p.Glu497=
ENST00000472848.1:n.15A>G (CFTR)
NM_000492.3:c.1581A>G , LRG_663t1:c.1581A>G (CFTR)	NP_000483.3:p.Glu527=
XM_011515751.1:c.1671A>G (CFTR)	XP_011514053.1:p.Glu557=
XM_011515752.1:c.1671A>G (CFTR)	XP_011514054.1:p.Glu557=
XM_011515753.1:c.1338A>G (CFTR)	XP_011514055.1:p.Glu446=
XM_011515754.1:c.1338A>G (CFTR)	XP_011514056.1:p.Glu446=
NR_149084.1:n.221+1081T>C (CFTR-AS1)
NM_000492.4:c.1581A>G (CFTR) MANE Select	NP_000483.3:p.Glu527=