Canonical Allele Identifier: CA221039

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7163
• ClinVar RCV Id: RCV000007583 ; RCV000079016 ; RCV001826437 ; RCV003473030
• dbSNP Id: rs75528968
• ExAC: 7:117180229 CT / C
• gnomAD v2: 7-117180229-CT-C
• gnomAD v4: 7-117540175-CT-C
• MyVariant Identifiers: chr7:g.117180232del (hg19) ; chr7:g.117180230del (hg19) ; chr7:g.117180232delT (hg19) ; chr7:g.117540178del (hg38) ; chr7:g.117540177del (hg38) ; chr7:g.117540176del (hg38)
• PubMed: PMID:1284538 ; PMID:1379211 ; PMID:7541274 ; PMID:8262525 ; PMID:8707306 ; PMID:9259197 ; PMID:9272157 ; PMID:9837986 ; PMID:11168024 ; PMID:12767731 ; PMID:22658665 ; PMID:22975760 ; PMID:23974870 ; PMID:24440181 ; PMID:27738188

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540178del , CM000669.2:g.117540178del	GRCh38
NC_000007.13:g.117180232del , CM000669.1:g.117180232del	GRCh37
NC_000007.12:g.116967468del	NCBI36
NG_016465.4:g.79395del , LRG_663:g.79395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.948del	ENSP00000497673.2:p.Phe316LeufsTer12
ENST00000647978.2:c.*845del	ENSP00000497658.1:n.*845del
ENST00000649781.2:c.948del	ENSP00000497203.1:p.Phe316LeufsTer12
ENST00000685018.2:c.948del	ENSP00000510194.2:p.Phe316LeufsTer12
ENST00000687278.2:c.948del	ENSP00000509593.2:p.Phe316LeufsTer12
ENST00000699585.1:c.948del	ENSP00000514456.1:p.Phe316LeufsTer12
ENST00000699596.1:c.948del	ENSP00000514465.1:p.Phe316LeufsTer12
ENST00000699597.1:c.948del	ENSP00000514466.1:p.Phe316LeufsTer12
ENST00000699598.1:c.948del	ENSP00000514467.1:p.Phe316LeufsTer12
ENST00000699599.1:c.948del	ENSP00000514468.1:p.Phe316LeufsTer12
ENST00000699600.1:c.948del	ENSP00000514469.1:p.Phe316LeufsTer12
ENST00000699601.1:c.948del	ENSP00000514470.1:p.Phe316LeufsTer12
ENST00000699602.1:c.948del	ENSP00000514471.1:p.Phe316LeufsTer12
ENST00000699604.1:c.*772del	ENSP00000514472.1:n.*772del
ENST00000699605.1:c.705del	ENSP00000514473.1:p.Phe235LeufsTer12
ENST00000003084.11:c.948del MANE Select	ENSP00000003084.6:p.Phe316LeufsTer12
ENST00000647978.1:c.*845del	ENSP00000497658.1:n.*845del
ENST00000648260.1:c.948del	ENSP00000497957.1:p.Phe316LeufsTer12
ENST00000649406.1:c.948del	ENSP00000497965.1:p.Phe316LeufsTer12
ENST00000649781.1:c.948del	ENSP00000497203.1:p.Phe316LeufsTer12
ENST00000673785.1:c.705del	ENSP00000501235.1:p.Phe235LeufsTer12
ENST00000003084.10:c.948del	ENSP00000003084.6:p.Phe316LeufsTer12
ENST00000426809.5:c.858del	ENSP00000389119.1:p.Phe286LeufsTer12
NM_000492.3:c.948del , LRG_663t1:c.948del	NP_000483.3:p.Phe316LeufsTer12
XM_011515751.1:c.1038del	XP_011514053.1:p.Phe346LeufsTer12
XM_011515752.1:c.1038del	XP_011514054.1:p.Phe346LeufsTer12
XM_011515753.1:c.705del	XP_011514055.1:p.Phe235LeufsTer12
XM_011515754.1:c.705del	XP_011514056.1:p.Phe235LeufsTer12
NM_000492.4:c.948del MANE Select	NP_000483.3:p.Phe316LeufsTer12