Canonical Allele Identifier: CA345305

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 53242
• ClinVar RCV Id: RCV000056347 ; RCV000506225 ; RCV000506518 ; RCV001004449 ; RCV001831726 ; RCV003473452
• dbSNP Id: rs397508200
• ExAC: 7:117199517 G / A
• gnomAD v2: 7-117199517-G-A
• gnomAD v3: 7-117559463-G-A
• gnomAD v4: 7-117559463-G-A
• MyVariant Identifiers: chr7:g.117199517G>A (hg19) ; chr7:g.117559463G>A (hg38)
• PubMed: PMID:7573058 ; PMID:7682196 ; PMID:9003508 ; PMID:9482579 ; PMID:12007216 ; PMID:12843337 ; PMID:15088804 ; PMID:16137181 ; PMID:16436643 ; PMID:18782298 ; PMID:20551465 ; PMID:23933162 ; PMID:23974870 ; PMID:25525159 ; PMID:25688174 ; PMID:26208274 ; PMID:27037489

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559463G>A , CM000669.2:g.117559463G>A	GRCh38
NC_000007.13:g.117199517G>A , CM000669.1:g.117199517G>A	GRCh37
NC_000007.12:g.116986753G>A	NCBI36
NG_016465.4:g.98680G>A , LRG_663:g.98680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1393-1G>A (CFTR)	ENSP00000497673.2:n.1393-1G>A
ENST00000647978.2:c.*1107-1G>A (CFTR)	ENSP00000497658.1:n.*1107-1G>A
ENST00000649781.2:c.1210-1G>A (CFTR)	ENSP00000497203.1:n.1210-1G>A
ENST00000685018.2:c.1393-1G>A (CFTR)	ENSP00000510194.2:n.1393-1G>A
ENST00000687278.2:c.1393-1G>A (CFTR)	ENSP00000509593.2:n.1393-1G>A
ENST00000699585.1:c.1393-1G>A (CFTR)	ENSP00000514456.1:n.1393-1G>A
ENST00000699596.1:c.1393-1G>A (CFTR)	ENSP00000514465.1:n.1393-1G>A
ENST00000699597.1:c.1388-1G>A (CFTR)	ENSP00000514466.1:n.1388-1G>A
ENST00000699598.1:c.1393-1G>A (CFTR)	ENSP00000514467.1:n.1393-1G>A
ENST00000699599.1:c.1393-1G>A (CFTR)	ENSP00000514468.1:n.1393-1G>A
ENST00000699600.1:c.1393-1G>A (CFTR)	ENSP00000514469.1:n.1393-1G>A
ENST00000699601.1:c.1393-1G>A (CFTR)	ENSP00000514470.1:n.1393-1G>A
ENST00000699602.1:c.1393-1G>A (CFTR)	ENSP00000514471.1:n.1393-1G>A
ENST00000699604.1:c.*1217-1G>A (CFTR)	ENSP00000514472.1:n.*1217-1G>A
ENST00000699605.1:c.967-1G>A (CFTR)	ENSP00000514473.1:n.967-1G>A
ENST00000003084.11:c.1393-1G>A (CFTR) MANE Select	ENSP00000003084.6:n.1393-1G>A
ENST00000647978.1:c.*1107-1G>A (CFTR)	ENSP00000497658.1:n.*1107-1G>A
ENST00000648260.1:c.1210-1G>A (CFTR)	ENSP00000497957.1:n.1210-1G>A
ENST00000649406.1:c.1210-1G>A (CFTR)	ENSP00000497965.1:n.1210-1G>A
ENST00000649781.1:c.1210-1G>A (CFTR)	ENSP00000497203.1:n.1210-1G>A
ENST00000003084.10:c.1393-1G>A (CFTR)	ENSP00000003084.6:n.1393-1G>A
ENST00000426809.5:c.1303-1G>A (CFTR)	ENSP00000389119.1:n.1303-1G>A
NM_000492.3:c.1393-1G>A , LRG_663t1:c.1393-1G>A (CFTR)	NP_000483.3:n.1393-1G>A
XM_011515751.1:c.1483-1G>A (CFTR)	XP_011514053.1:n.1483-1G>A
XM_011515752.1:c.1483-1G>A (CFTR)	XP_011514054.1:n.1483-1G>A
XM_011515753.1:c.1150-1G>A (CFTR)	XP_011514055.1:n.1150-1G>A
XM_011515754.1:c.1150-1G>A (CFTR)	XP_011514056.1:n.1150-1G>A
NR_149084.1:n.221+1270C>T (CFTR-AS1)
NM_000492.4:c.1393-1G>A (CFTR) MANE Select	NP_000483.3:n.1393-1G>A