Canonical Allele Identifier: CA326645

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53366
• ClinVar RCV Id: RCV000577540
• dbSNP Id: rs397508289
• MyVariant Identifiers: chr7:g.117230465del (hg19) ; chr7:g.117590411del (hg38)
• PubMed: PMID:10980550

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590411del , CM000669.2:g.117590411del	GRCh38
NC_000007.13:g.117230465del , CM000669.1:g.117230465del	GRCh37
NC_000007.12:g.117017701del	NCBI36
NG_016465.4:g.129628del , LRG_663:g.129628del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1738del	ENSP00000497673.2:p.Val580PhefsTer2
ENST00000647978.2:c.*1452del	ENSP00000497658.1:n.*1452del
ENST00000649781.2:c.1555del	ENSP00000497203.1:p.Val519PhefsTer2
ENST00000685018.2:c.1738del	ENSP00000510194.2:p.Val580PhefsTer2
ENST00000687278.2:c.1738del	ENSP00000509593.2:p.Val580PhefsTer2
ENST00000699585.1:c.1738del	ENSP00000514456.1:p.Val580PhefsTer2
ENST00000699598.1:c.1738del	ENSP00000514467.1:p.Val580PhefsTer2
ENST00000699599.1:c.1738del	ENSP00000514468.1:p.Val580PhefsTer2
ENST00000699600.1:c.1738del	ENSP00000514469.1:p.Val580PhefsTer2
ENST00000699601.1:c.*38del	ENSP00000514470.1:n.*38del
ENST00000699602.1:c.1738del	ENSP00000514471.1:p.Val580PhefsTer2
ENST00000699604.1:c.*1562del	ENSP00000514472.1:n.*1562del
ENST00000699605.1:c.1312del	ENSP00000514473.1:p.Val438PhefsTer2
ENST00000003084.11:c.1738del MANE Select	ENSP00000003084.6:p.Val580PhefsTer2
ENST00000647978.1:c.*1452del	ENSP00000497658.1:n.*1452del
ENST00000648260.1:c.1402-12415del	ENSP00000497957.1:n.1402-12415del
ENST00000649406.1:c.1555del	ENSP00000497965.1:p.Val519PhefsTer2
ENST00000649781.1:c.1555del	ENSP00000497203.1:p.Val519PhefsTer2
ENST00000003084.10:c.1738del	ENSP00000003084.6:p.Val580PhefsTer2
ENST00000426809.5:c.1648del	ENSP00000389119.1:p.Val550PhefsTer2
NM_000492.3:c.1738del , LRG_663t1:c.1738del	NP_000483.3:p.Val580PhefsTer2
XM_011515751.1:c.1828del	XP_011514053.1:p.Val610PhefsTer2
XM_011515752.1:c.1828del	XP_011514054.1:p.Val610PhefsTer2
XM_011515753.1:c.1495del	XP_011514055.1:p.Val499PhefsTer2
XM_011515754.1:c.1495del	XP_011514056.1:p.Val499PhefsTer2
NM_000492.4:c.1738del MANE Select	NP_000483.3:p.Val580PhefsTer2