Canonical Allele Identifier: CA327187

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53743
• ClinVar RCV Id: RCV000577636
• dbSNP Id: rs397508563
• MyVariant Identifiers: chr7:g.117171022_117171024del (hg19) ; chr7:g.117530968_117530970del (hg38)
• PubMed: PMID:10875853 ; PMID:17331079

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530970_117530972del , CM000669.2:g.117530970_117530972del	GRCh38
NC_000007.13:g.117171024_117171026del , CM000669.1:g.117171024_117171026del	GRCh37
NC_000007.12:g.116958260_116958262del	NCBI36
NG_016465.4:g.70187_70189del , LRG_663:g.70187_70189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.345_347del	ENSP00000497673.2:p.Glu116del
ENST00000647978.2:c.*242_*244del	ENSP00000497658.1:n.*242_*244del
ENST00000649781.2:c.345_347del	ENSP00000497203.1:p.Glu116del
ENST00000685018.2:c.345_347del	ENSP00000510194.2:p.Glu116del
ENST00000687278.2:c.345_347del	ENSP00000509593.2:p.Glu116del
ENST00000699585.1:c.345_347del	ENSP00000514456.1:p.Glu116del
ENST00000699596.1:c.345_347del	ENSP00000514465.1:p.Glu116del
ENST00000699597.1:c.345_347del	ENSP00000514466.1:p.Glu116del
ENST00000699598.1:c.345_347del	ENSP00000514467.1:p.Glu116del
ENST00000699599.1:c.345_347del	ENSP00000514468.1:p.Glu116del
ENST00000699600.1:c.345_347del	ENSP00000514469.1:p.Glu116del
ENST00000699601.1:c.345_347del	ENSP00000514470.1:p.Glu116del
ENST00000699602.1:c.345_347del	ENSP00000514471.1:p.Glu116del
ENST00000699604.1:c.*169_*171del	ENSP00000514472.1:n.*169_*171del
ENST00000699605.1:c.102_104del	ENSP00000514473.1:p.Glu35del
ENST00000446805.2:c.102_104del	ENSP00000417012.1:p.Glu35del
ENST00000003084.11:c.345_347del MANE Select	ENSP00000003084.6:p.Glu116del
ENST00000647978.1:c.*242_*244del	ENSP00000497658.1:n.*242_*244del
ENST00000648260.1:c.345_347del	ENSP00000497957.1:p.Glu116del
ENST00000649406.1:c.345_347del	ENSP00000497965.1:p.Glu116del
ENST00000649781.1:c.345_347del	ENSP00000497203.1:p.Glu116del
ENST00000673785.1:c.102_104del	ENSP00000501235.1:p.Glu35del
ENST00000003084.10:c.345_347del	ENSP00000003084.6:p.Glu116del
ENST00000426809.5:c.345_347del	ENSP00000389119.1:p.Glu116del
ENST00000446805.1:c.102_104del	ENSP00000417012.1:p.Glu35del
NM_000492.3:c.345_347del , LRG_663t1:c.345_347del	NP_000483.3:p.Glu116del
XM_011515751.1:c.435_437del	XP_011514053.1:p.Glu146del
XM_011515752.1:c.435_437del	XP_011514054.1:p.Glu146del
XM_011515753.1:c.102_104del	XP_011514055.1:p.Glu35del
XM_011515754.1:c.102_104del	XP_011514056.1:p.Glu35del
NM_000492.4:c.345_347del MANE Select	NP_000483.3:p.Glu116del