Canonical Allele Identifier: CA368985061

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1775747
• ClinVar RCV Id: RCV002398267 ; RCV003493946
• dbSNP Id: rs1562898548
• gnomAD v4: 7-117559654-A-C
• MyVariant Identifiers: chr7:g.117199708A>C (hg19) ; chr7:g.117559654A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559654A>C , CM000669.2:g.117559654A>C	GRCh38
NC_000007.13:g.117199708A>C , CM000669.1:g.117199708A>C	GRCh37
NC_000007.12:g.116986944A>C	NCBI36
NG_016465.4:g.98871A>C , LRG_663:g.98871A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1583A>C (CFTR)	ENSP00000497673.2:p.Glu528Ala
ENST00000647978.2:c.*1297A>C (CFTR)	ENSP00000497658.1:n.*1297A>C
ENST00000649781.2:c.1400A>C (CFTR)	ENSP00000497203.1:p.Glu467Ala
ENST00000685018.2:c.1583A>C (CFTR)	ENSP00000510194.2:p.Glu528Ala
ENST00000687278.2:c.1583A>C (CFTR)	ENSP00000509593.2:p.Glu528Ala
ENST00000699585.1:c.1583A>C (CFTR)	ENSP00000514456.1:p.Glu528Ala
ENST00000699596.1:c.1583A>C (CFTR)	ENSP00000514465.1:p.Glu528Ala
ENST00000699597.1:c.*141A>C (CFTR)	ENSP00000514466.1:n.*141A>C
ENST00000699598.1:c.1583A>C (CFTR)	ENSP00000514467.1:p.Glu528Ala
ENST00000699599.1:c.1583A>C (CFTR)	ENSP00000514468.1:p.Glu528Ala
ENST00000699600.1:c.1583A>C (CFTR)	ENSP00000514469.1:p.Glu528Ala
ENST00000699601.1:c.1583A>C (CFTR)	ENSP00000514470.1:p.Glu528Ala
ENST00000699602.1:c.1583A>C (CFTR)	ENSP00000514471.1:p.Glu528Ala
ENST00000699604.1:c.*1407A>C (CFTR)	ENSP00000514472.1:n.*1407A>C
ENST00000699605.1:c.1157A>C (CFTR)	ENSP00000514473.1:p.Glu386Ala
ENST00000003084.11:c.1583A>C (CFTR) MANE Select	ENSP00000003084.6:p.Glu528Ala
ENST00000647978.1:c.*1297A>C (CFTR)	ENSP00000497658.1:n.*1297A>C
ENST00000648260.1:c.1400A>C (CFTR)	ENSP00000497957.1:p.Glu467Ala
ENST00000649406.1:c.1400A>C (CFTR)	ENSP00000497965.1:p.Glu467Ala
ENST00000649781.1:c.1400A>C (CFTR)	ENSP00000497203.1:p.Glu467Ala
ENST00000003084.10:c.1583A>C (CFTR)	ENSP00000003084.6:p.Glu528Ala
ENST00000426809.5:c.1493A>C (CFTR)	ENSP00000389119.1:p.Glu498Ala
ENST00000472848.1:n.17A>C (CFTR)
NM_000492.3:c.1583A>C , LRG_663t1:c.1583A>C (CFTR)	NP_000483.3:p.Glu528Ala
XM_011515751.1:c.1673A>C (CFTR)	XP_011514053.1:p.Glu558Ala
XM_011515752.1:c.1673A>C (CFTR)	XP_011514054.1:p.Glu558Ala
XM_011515753.1:c.1340A>C (CFTR)	XP_011514055.1:p.Glu447Ala
XM_011515754.1:c.1340A>C (CFTR)	XP_011514056.1:p.Glu447Ala
NR_149084.1:n.221+1079T>G (CFTR-AS1)
NM_000492.4:c.1583A>C (CFTR) MANE Select	NP_000483.3:p.Glu528Ala