Canonical Allele Identifier: CA368982464

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 554212
• ClinVar RCV Id: RCV000669800 ; RCV000780121 ; RCV001835909
• dbSNP Id: rs1554382664
• gnomAD v4: 7-117548800-G-C
• MyVariant Identifiers: chr7:g.117188854G>C (hg19) ; chr7:g.117548800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548800G>C , CM000669.2:g.117548800G>C	GRCh38
NC_000007.13:g.117188854G>C , CM000669.1:g.117188854G>C	GRCh37
NC_000007.12:g.116976090G>C	NCBI36
NG_016465.4:g.88017G>C , LRG_663:g.88017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1369G>C (CFTR)	ENSP00000497673.2:p.Ala457Pro
ENST00000647978.2:c.*1106+6692G>C (CFTR)	ENSP00000497658.1:n.*1106+6692G>C
ENST00000649781.2:c.1209+6692G>C (CFTR)	ENSP00000497203.1:n.1209+6692G>C
ENST00000685018.2:c.1369G>C (CFTR)	ENSP00000510194.2:p.Ala457Pro
ENST00000687278.2:c.1369G>C (CFTR)	ENSP00000509593.2:p.Ala457Pro
ENST00000699585.1:c.1369G>C (CFTR)	ENSP00000514456.1:p.Ala457Pro
ENST00000699596.1:c.1369G>C (CFTR)	ENSP00000514465.1:p.Ala457Pro
ENST00000699597.1:c.1369G>C (CFTR)	ENSP00000514466.1:p.Ala457Pro
ENST00000699598.1:c.1369G>C (CFTR)	ENSP00000514467.1:p.Ala457Pro
ENST00000699599.1:c.1369G>C (CFTR)	ENSP00000514468.1:p.Ala457Pro
ENST00000699600.1:c.1369G>C (CFTR)	ENSP00000514469.1:p.Ala457Pro
ENST00000699601.1:c.1369G>C (CFTR)	ENSP00000514470.1:p.Ala457Pro
ENST00000699602.1:c.1369G>C (CFTR)	ENSP00000514471.1:p.Ala457Pro
ENST00000699604.1:c.*1193G>C (CFTR)	ENSP00000514472.1:n.*1193G>C
ENST00000699605.1:c.966+6692G>C (CFTR)	ENSP00000514473.1:n.966+6692G>C
ENST00000003084.11:c.1369G>C (CFTR) MANE Select	ENSP00000003084.6:p.Ala457Pro
ENST00000647978.1:c.*1106+6692G>C (CFTR)	ENSP00000497658.1:n.*1106+6692G>C
ENST00000648260.1:c.1209+6692G>C (CFTR)	ENSP00000497957.1:n.1209+6692G>C
ENST00000649406.1:c.1209+6692G>C (CFTR)	ENSP00000497965.1:n.1209+6692G>C
ENST00000649781.1:c.1209+6692G>C (CFTR)	ENSP00000497203.1:n.1209+6692G>C
ENST00000003084.10:c.1369G>C (CFTR)	ENSP00000003084.6:p.Ala457Pro
ENST00000426809.5:c.1279G>C (CFTR)	ENSP00000389119.1:p.Ala427Pro
NM_000492.3:c.1369G>C , LRG_663t1:c.1369G>C (CFTR)	NP_000483.3:p.Ala457Pro
XM_011515751.1:c.1459G>C (CFTR)	XP_011514053.1:p.Ala487Pro
XM_011515752.1:c.1459G>C (CFTR)	XP_011514054.1:p.Ala487Pro
XM_011515753.1:c.1126G>C (CFTR)	XP_011514055.1:p.Ala376Pro
XM_011515754.1:c.1126G>C (CFTR)	XP_011514056.1:p.Ala376Pro
NR_149084.1:n.222-6261C>G (CFTR-AS1)
NM_000492.4:c.1369G>C (CFTR) MANE Select	NP_000483.3:p.Ala457Pro