Canonical Allele Identifier: CA457227817

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1148477
• ClinVar RCV Id: RCV001488345
• dbSNP Id: rs376039579
• gnomAD v2: 7-117188754-T-C
• gnomAD v4: 7-117548700-T-C
• MyVariant Identifiers: chr7:g.117188754T>C (hg19) ; chr7:g.117548700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548700T>C , CM000669.2:g.117548700T>C	GRCh38
NC_000007.13:g.117188754T>C , CM000669.1:g.117188754T>C	GRCh37
NC_000007.12:g.116975990T>C	NCBI36
NG_016465.4:g.87917T>C , LRG_663:g.87917T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1269T>C (CFTR)	ENSP00000497673.2:p.Asn423=
ENST00000647978.2:c.*1106+6592T>C (CFTR)	ENSP00000497658.1:n.*1106+6592T>C
ENST00000649781.2:c.1209+6592T>C (CFTR)	ENSP00000497203.1:n.1209+6592T>C
ENST00000685018.2:c.1269T>C (CFTR)	ENSP00000510194.2:p.Asn423=
ENST00000687278.2:c.1269T>C (CFTR)	ENSP00000509593.2:p.Asn423=
ENST00000699585.1:c.1269T>C (CFTR)	ENSP00000514456.1:p.Asn423=
ENST00000699596.1:c.1269T>C (CFTR)	ENSP00000514465.1:p.Asn423=
ENST00000699597.1:c.1269T>C (CFTR)	ENSP00000514466.1:p.Asn423=
ENST00000699598.1:c.1269T>C (CFTR)	ENSP00000514467.1:p.Asn423=
ENST00000699599.1:c.1269T>C (CFTR)	ENSP00000514468.1:p.Asn423=
ENST00000699600.1:c.1269T>C (CFTR)	ENSP00000514469.1:p.Asn423=
ENST00000699601.1:c.1269T>C (CFTR)	ENSP00000514470.1:p.Asn423=
ENST00000699602.1:c.1269T>C (CFTR)	ENSP00000514471.1:p.Asn423=
ENST00000699604.1:c.*1093T>C (CFTR)	ENSP00000514472.1:n.*1093T>C
ENST00000699605.1:c.966+6592T>C (CFTR)	ENSP00000514473.1:n.966+6592T>C
ENST00000003084.11:c.1269T>C (CFTR) MANE Select	ENSP00000003084.6:p.Asn423=
ENST00000647978.1:c.*1106+6592T>C (CFTR)	ENSP00000497658.1:n.*1106+6592T>C
ENST00000648260.1:c.1209+6592T>C (CFTR)	ENSP00000497957.1:n.1209+6592T>C
ENST00000649406.1:c.1209+6592T>C (CFTR)	ENSP00000497965.1:n.1209+6592T>C
ENST00000649781.1:c.1209+6592T>C (CFTR)	ENSP00000497203.1:n.1209+6592T>C
ENST00000003084.10:c.1269T>C (CFTR)	ENSP00000003084.6:p.Asn423=
ENST00000426809.5:c.1179T>C (CFTR)	ENSP00000389119.1:p.Asn393=
NM_000492.3:c.1269T>C , LRG_663t1:c.1269T>C (CFTR)	NP_000483.3:p.Asn423=
XM_011515751.1:c.1359T>C (CFTR)	XP_011514053.1:p.Asn453=
XM_011515752.1:c.1359T>C (CFTR)	XP_011514054.1:p.Asn453=
XM_011515753.1:c.1026T>C (CFTR)	XP_011514055.1:p.Asn342=
XM_011515754.1:c.1026T>C (CFTR)	XP_011514056.1:p.Asn342=
NR_149084.1:n.222-6161A>G (CFTR-AS1)
NM_000492.4:c.1269T>C (CFTR) MANE Select	NP_000483.3:p.Asn423=