Canonical Allele Identifier: CA326551

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53295
• ClinVar RCV Id: RCV000577212 ; RCV003478986
• dbSNP Id: rs397508238
• MyVariant Identifiers: chr7:g.117227805T>C (hg19) ; chr7:g.117587751T>C (hg38)
• PubMed: PMID:10834512

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587751T>C , CM000669.2:g.117587751T>C	GRCh38
NC_000007.13:g.117227805T>C , CM000669.1:g.117227805T>C	GRCh37
NC_000007.12:g.117015041T>C	NCBI36
NG_016465.4:g.126968T>C , LRG_663:g.126968T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1597T>C	ENSP00000497673.2:p.Phe533Leu
ENST00000647978.2:c.*1311T>C	ENSP00000497658.1:n.*1311T>C
ENST00000649781.2:c.1414T>C	ENSP00000497203.1:p.Phe472Leu
ENST00000685018.2:c.1597T>C	ENSP00000510194.2:p.Phe533Leu
ENST00000687278.2:c.1597T>C	ENSP00000509593.2:p.Phe533Leu
ENST00000699585.1:c.1597T>C	ENSP00000514456.1:p.Phe533Leu
ENST00000699598.1:c.1597T>C	ENSP00000514467.1:p.Phe533Leu
ENST00000699599.1:c.1597T>C	ENSP00000514468.1:p.Phe533Leu
ENST00000699600.1:c.1597T>C	ENSP00000514469.1:p.Phe533Leu
ENST00000699601.1:c.1597T>C	ENSP00000514470.1:p.Phe533Leu
ENST00000699602.1:c.1597T>C	ENSP00000514471.1:p.Phe533Leu
ENST00000699604.1:c.*1421T>C	ENSP00000514472.1:n.*1421T>C
ENST00000699605.1:c.1171T>C	ENSP00000514473.1:p.Phe391Leu
ENST00000003084.11:c.1597T>C MANE Select	ENSP00000003084.6:p.Phe533Leu
ENST00000647978.1:c.*1311T>C	ENSP00000497658.1:n.*1311T>C
ENST00000648260.1:c.1402-15075T>C	ENSP00000497957.1:n.1402-15075T>C
ENST00000649406.1:c.1414T>C	ENSP00000497965.1:p.Phe472Leu
ENST00000649781.1:c.1414T>C	ENSP00000497203.1:p.Phe472Leu
ENST00000003084.10:c.1597T>C	ENSP00000003084.6:p.Phe533Leu
ENST00000426809.5:c.1507T>C	ENSP00000389119.1:p.Phe503Leu
NM_000492.3:c.1597T>C , LRG_663t1:c.1597T>C	NP_000483.3:p.Phe533Leu
XM_011515751.1:c.1687T>C	XP_011514053.1:p.Phe563Leu
XM_011515752.1:c.1687T>C	XP_011514054.1:p.Phe563Leu
XM_011515753.1:c.1354T>C	XP_011514055.1:p.Phe452Leu
XM_011515754.1:c.1354T>C	XP_011514056.1:p.Phe452Leu
NM_000492.4:c.1597T>C MANE Select	NP_000483.3:p.Phe533Leu