Canonical Allele Identifier: CA325578

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7188
• ClinVar RCV Id: RCV000007608
• dbSNP Id: rs387906371
• MyVariant Identifiers: chr7:g.117171138_117171155del (hg19) ; chr7:g.117531084_117531101del (hg38)
• PubMed: PMID:1678049 ; PMID:1757965 ; PMID:7513292 ; PMID:7581390

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531084_117531101del , CM000669.2:g.117531084_117531101del	GRCh38
NC_000007.13:g.117171138_117171155del , CM000669.1:g.117171138_117171155del	GRCh37
NC_000007.12:g.116958374_116958391del	NCBI36
NG_016465.4:g.70301_70318del , LRG_663:g.70301_70318del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.459_476del	ENSP00000497673.2:p.Ile154_Leu159del
ENST00000647978.2:c.*356_*373del	ENSP00000497658.1:n.*356_*373del
ENST00000649781.2:c.459_476del	ENSP00000497203.1:p.Ile154_Leu159del
ENST00000685018.2:c.459_476del	ENSP00000510194.2:p.Ile154_Leu159del
ENST00000687278.2:c.459_476del	ENSP00000509593.2:p.Ile154_Leu159del
ENST00000699585.1:c.459_476del	ENSP00000514456.1:p.Ile154_Leu159del
ENST00000699596.1:c.459_476del	ENSP00000514465.1:p.Ile154_Leu159del
ENST00000699597.1:c.459_476del	ENSP00000514466.1:p.Ile154_Leu159del
ENST00000699598.1:c.459_476del	ENSP00000514467.1:p.Ile154_Leu159del
ENST00000699599.1:c.459_476del	ENSP00000514468.1:p.Ile154_Leu159del
ENST00000699600.1:c.459_476del	ENSP00000514469.1:p.Ile154_Leu159del
ENST00000699601.1:c.459_476del	ENSP00000514470.1:p.Ile154_Leu159del
ENST00000699602.1:c.459_476del	ENSP00000514471.1:p.Ile154_Leu159del
ENST00000699604.1:c.*283_*300del	ENSP00000514472.1:n.*283_*300del
ENST00000699605.1:c.216_233del	ENSP00000514473.1:p.Ile73_Leu78del
ENST00000003084.11:c.459_476del MANE Select	ENSP00000003084.6:p.Ile154_Leu159del
ENST00000647978.1:c.*356_*373del	ENSP00000497658.1:n.*356_*373del
ENST00000648260.1:c.459_476del	ENSP00000497957.1:p.Ile154_Leu159del
ENST00000649406.1:c.459_476del	ENSP00000497965.1:p.Ile154_Leu159del
ENST00000649781.1:c.459_476del	ENSP00000497203.1:p.Ile154_Leu159del
ENST00000673785.1:c.216_233del	ENSP00000501235.1:p.Ile73_Leu78del
ENST00000003084.10:c.459_476del	ENSP00000003084.6:p.Ile154_Leu159del
ENST00000426809.5:c.459_476del	ENSP00000389119.1:p.Ile154_Leu159del
NM_000492.3:c.459_476del , LRG_663t1:c.459_476del	NP_000483.3:p.Ile154_Leu159del
XM_011515751.1:c.549_566del	XP_011514053.1:p.Ile184_Leu189del
XM_011515752.1:c.549_566del	XP_011514054.1:p.Ile184_Leu189del
XM_011515753.1:c.216_233del	XP_011514055.1:p.Ile73_Leu78del
XM_011515754.1:c.216_233del	XP_011514056.1:p.Ile73_Leu78del
NM_000492.4:c.459_476del MANE Select	NP_000483.3:p.Ile154_Leu159del