Canonical Allele Identifier: CA4451013

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 526023
• ClinVar RCV Id: RCV000630462 ; RCV001834988 ; RCV003736863
• dbSNP Id: rs768243039
• ExAC: 7:117199629 A / G
• gnomAD v2: 7-117199629-A-G
• gnomAD v4: 7-117559575-A-G
• MyVariant Identifiers: chr7:g.117199629A>G (hg19) ; chr7:g.117559575A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559575A>G , CM000669.2:g.117559575A>G	GRCh38
NC_000007.13:g.117199629A>G , CM000669.1:g.117199629A>G	GRCh37
NC_000007.12:g.116986865A>G	NCBI36
NG_016465.4:g.98792A>G , LRG_663:g.98792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1504A>G (CFTR)	ENSP00000497673.2:p.Ile502Val
ENST00000647978.2:c.*1218A>G (CFTR)	ENSP00000497658.1:n.*1218A>G
ENST00000649781.2:c.1321A>G (CFTR)	ENSP00000497203.1:p.Ile441Val
ENST00000685018.2:c.1504A>G (CFTR)	ENSP00000510194.2:p.Ile502Val
ENST00000687278.2:c.1504A>G (CFTR)	ENSP00000509593.2:p.Ile502Val
ENST00000699585.1:c.1504A>G (CFTR)	ENSP00000514456.1:p.Ile502Val
ENST00000699596.1:c.1504A>G (CFTR)	ENSP00000514465.1:p.Ile502Val
ENST00000699597.1:c.*62A>G (CFTR)	ENSP00000514466.1:n.*62A>G
ENST00000699598.1:c.1504A>G (CFTR)	ENSP00000514467.1:p.Ile502Val
ENST00000699599.1:c.1504A>G (CFTR)	ENSP00000514468.1:p.Ile502Val
ENST00000699600.1:c.1504A>G (CFTR)	ENSP00000514469.1:p.Ile502Val
ENST00000699601.1:c.1504A>G (CFTR)	ENSP00000514470.1:p.Ile502Val
ENST00000699602.1:c.1504A>G (CFTR)	ENSP00000514471.1:p.Ile502Val
ENST00000699604.1:c.*1328A>G (CFTR)	ENSP00000514472.1:n.*1328A>G
ENST00000699605.1:c.1078A>G (CFTR)	ENSP00000514473.1:p.Ile360Val
ENST00000003084.11:c.1504A>G (CFTR) MANE Select	ENSP00000003084.6:p.Ile502Val
ENST00000647978.1:c.*1218A>G (CFTR)	ENSP00000497658.1:n.*1218A>G
ENST00000648260.1:c.1321A>G (CFTR)	ENSP00000497957.1:p.Ile441Val
ENST00000649406.1:c.1321A>G (CFTR)	ENSP00000497965.1:p.Ile441Val
ENST00000649781.1:c.1321A>G (CFTR)	ENSP00000497203.1:p.Ile441Val
ENST00000003084.10:c.1504A>G (CFTR)	ENSP00000003084.6:p.Ile502Val
ENST00000426809.5:c.1414A>G (CFTR)	ENSP00000389119.1:p.Ile472Val
NM_000492.3:c.1504A>G , LRG_663t1:c.1504A>G (CFTR)	NP_000483.3:p.Ile502Val
XM_011515751.1:c.1594A>G (CFTR)	XP_011514053.1:p.Ile532Val
XM_011515752.1:c.1594A>G (CFTR)	XP_011514054.1:p.Ile532Val
XM_011515753.1:c.1261A>G (CFTR)	XP_011514055.1:p.Ile421Val
XM_011515754.1:c.1261A>G (CFTR)	XP_011514056.1:p.Ile421Val
NR_149084.1:n.221+1158T>C (CFTR-AS1)
NM_000492.4:c.1504A>G (CFTR) MANE Select	NP_000483.3:p.Ile502Val