Canonical Allele Identifier: CA457228768

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1102388
• ClinVar RCV Id: RCV002282545
• dbSNP Id: rs754152822
• gnomAD v4: 7-117559508-G-A
• MyVariant Identifiers: chr7:g.117199562G>A (hg19) ; chr7:g.117559508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559508G>A , CM000669.2:g.117559508G>A	GRCh38
NC_000007.13:g.117199562G>A , CM000669.1:g.117199562G>A	GRCh37
NC_000007.12:g.116986798G>A	NCBI36
NG_016465.4:g.98725G>A , LRG_663:g.98725G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1437G>A (CFTR)	ENSP00000497673.2:p.Glu479=
ENST00000647978.2:c.*1151G>A (CFTR)	ENSP00000497658.1:n.*1151G>A
ENST00000649781.2:c.1254G>A (CFTR)	ENSP00000497203.1:p.Glu418=
ENST00000685018.2:c.1437G>A (CFTR)	ENSP00000510194.2:p.Glu479=
ENST00000687278.2:c.1437G>A (CFTR)	ENSP00000509593.2:p.Glu479=
ENST00000699585.1:c.1437G>A (CFTR)	ENSP00000514456.1:p.Glu479=
ENST00000699596.1:c.1437G>A (CFTR)	ENSP00000514465.1:p.Glu479=
ENST00000699597.1:c.1432G>A (CFTR)	ENSP00000514466.1:p.Gly478Arg
ENST00000699598.1:c.1437G>A (CFTR)	ENSP00000514467.1:p.Glu479=
ENST00000699599.1:c.1437G>A (CFTR)	ENSP00000514468.1:p.Glu479=
ENST00000699600.1:c.1437G>A (CFTR)	ENSP00000514469.1:p.Glu479=
ENST00000699601.1:c.1437G>A (CFTR)	ENSP00000514470.1:p.Glu479=
ENST00000699602.1:c.1437G>A (CFTR)	ENSP00000514471.1:p.Glu479=
ENST00000699604.1:c.*1261G>A (CFTR)	ENSP00000514472.1:n.*1261G>A
ENST00000699605.1:c.1011G>A (CFTR)	ENSP00000514473.1:p.Glu337=
ENST00000003084.11:c.1437G>A (CFTR) MANE Select	ENSP00000003084.6:p.Glu479=
ENST00000647978.1:c.*1151G>A (CFTR)	ENSP00000497658.1:n.*1151G>A
ENST00000648260.1:c.1254G>A (CFTR)	ENSP00000497957.1:p.Glu418=
ENST00000649406.1:c.1254G>A (CFTR)	ENSP00000497965.1:p.Glu418=
ENST00000649781.1:c.1254G>A (CFTR)	ENSP00000497203.1:p.Glu418=
ENST00000003084.10:c.1437G>A (CFTR)	ENSP00000003084.6:p.Glu479=
ENST00000426809.5:c.1347G>A (CFTR)	ENSP00000389119.1:p.Glu449=
NM_000492.3:c.1437G>A , LRG_663t1:c.1437G>A (CFTR)	NP_000483.3:p.Glu479=
XM_011515751.1:c.1527G>A (CFTR)	XP_011514053.1:p.Glu509=
XM_011515752.1:c.1527G>A (CFTR)	XP_011514054.1:p.Glu509=
XM_011515753.1:c.1194G>A (CFTR)	XP_011514055.1:p.Glu398=
XM_011515754.1:c.1194G>A (CFTR)	XP_011514056.1:p.Glu398=
NR_149084.1:n.221+1225C>T (CFTR-AS1)
NM_000492.4:c.1437G>A (CFTR) MANE Select	NP_000483.3:p.Glu479=