Canonical Allele Identifier: CA326590

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53326
• ClinVar RCV Id: RCV000577016 ; RCV001826619
• dbSNP Id: rs397508257
• MyVariant Identifiers: chr7:g.117227878del (hg19) ; chr7:g.117587824del (hg38)
• PubMed: PMID:11379874

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587824del , CM000669.2:g.117587824del	GRCh38
NC_000007.13:g.117227878del , CM000669.1:g.117227878del	GRCh37
NC_000007.12:g.117015114del	NCBI36
NG_016465.4:g.127041del , LRG_663:g.127041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1670del	ENSP00000497673.2:p.Ser557PhefsTer2
ENST00000647978.2:c.*1384del	ENSP00000497658.1:n.*1384del
ENST00000649781.2:c.1487del	ENSP00000497203.1:p.Ser496PhefsTer2
ENST00000685018.2:c.1670del	ENSP00000510194.2:p.Ser557PhefsTer2
ENST00000687278.2:c.1670del	ENSP00000509593.2:p.Ser557PhefsTer2
ENST00000699585.1:c.1670del	ENSP00000514456.1:p.Ser557PhefsTer2
ENST00000699598.1:c.1670del	ENSP00000514467.1:p.Ser557PhefsTer2
ENST00000699599.1:c.1670del	ENSP00000514468.1:p.Ser557PhefsTer2
ENST00000699600.1:c.1670del	ENSP00000514469.1:p.Ser557PhefsTer2
ENST00000699601.1:c.1670del	ENSP00000514470.1:p.Ser557PhefsTer2
ENST00000699602.1:c.1670del	ENSP00000514471.1:p.Ser557PhefsTer2
ENST00000699604.1:c.*1494del	ENSP00000514472.1:n.*1494del
ENST00000699605.1:c.1244del	ENSP00000514473.1:p.Ser415PhefsTer2
ENST00000003084.11:c.1670del MANE Select	ENSP00000003084.6:p.Ser557PhefsTer2
ENST00000647978.1:c.*1384del	ENSP00000497658.1:n.*1384del
ENST00000648260.1:c.1402-15002del	ENSP00000497957.1:n.1402-15002del
ENST00000649406.1:c.1487del	ENSP00000497965.1:p.Ser496PhefsTer2
ENST00000649781.1:c.1487del	ENSP00000497203.1:p.Ser496PhefsTer2
ENST00000003084.10:c.1670del	ENSP00000003084.6:p.Ser557PhefsTer2
ENST00000426809.5:c.1580del	ENSP00000389119.1:p.Ser527PhefsTer2
NM_000492.3:c.1670del , LRG_663t1:c.1670del	NP_000483.3:p.Ser557PhefsTer2
XM_011515751.1:c.1760del	XP_011514053.1:p.Ser587PhefsTer2
XM_011515752.1:c.1760del	XP_011514054.1:p.Ser587PhefsTer2
XM_011515753.1:c.1427del	XP_011514055.1:p.Ser476PhefsTer2
XM_011515754.1:c.1427del	XP_011514056.1:p.Ser476PhefsTer2
NM_000492.4:c.1670del MANE Select	NP_000483.3:p.Ser557PhefsTer2