Canonical Allele Identifier: CA327385

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53876
• ClinVar RCV Id: RCV000785642 ; RCV001826678
• dbSNP Id: rs397508662
• gnomAD v4: 7-117664758-TCCTAAGC-T
• MyVariant Identifiers: chr7:g.117304814_117304820del (hg19) ; chr7:g.117664760_117664766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664760_117664766del , CM000669.2:g.117664760_117664766del	GRCh38
NC_000007.13:g.117304814_117304820del , CM000669.1:g.117304814_117304820del	GRCh37
NC_000007.12:g.117092050_117092056del	NCBI36
NG_016465.4:g.203977_203983del , LRG_663:g.203977_203983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*245_*251del	ENSP00000497673.2:n.*245_*251del
ENST00000647978.2:c.*3750_*3756del	ENSP00000497658.1:n.*3750_*3756del
ENST00000649781.2:c.3853_3859del	ENSP00000497203.1:p.Leu1285MetfsTer6
ENST00000685018.2:c.*249_*255del	ENSP00000510194.2:n.*249_*255del
ENST00000687278.2:c.*689_*695del	ENSP00000509593.2:n.*689_*695del
ENST00000699585.1:c.*245_*251del	ENSP00000514456.1:n.*245_*251del
ENST00000699598.1:c.4036_4042del	ENSP00000514467.1:p.Leu1346MetfsTer6
ENST00000699599.1:c.*249_*255del	ENSP00000514468.1:n.*249_*255del
ENST00000699600.1:c.*697_*703del	ENSP00000514469.1:n.*697_*703del
ENST00000699601.1:c.*2411_*2417del	ENSP00000514470.1:n.*2411_*2417del
ENST00000699602.1:c.4030_4036del	ENSP00000514471.1:p.Leu1344MetfsTer6
ENST00000699604.1:c.*3860_*3866del	ENSP00000514472.1:n.*3860_*3866del
ENST00000699605.1:c.3610_3616del	ENSP00000514473.1:p.Leu1204MetfsTer6
ENST00000699606.1:n.2204_2210del
ENST00000685018.1:c.900_906del	ENSP00000510194.1:n.900_906del
ENST00000687278.1:c.1823_1829del	ENSP00000509593.1:n.1823_1829del
ENST00000689011.1:c.618_624del
ENST00000003084.11:c.4036_4042del MANE Select	ENSP00000003084.6:p.Leu1346MetfsTer6
ENST00000647720.1:c.1486_1492del
ENST00000649781.1:c.3853_3859del	ENSP00000497203.1:p.Leu1285MetfsTer6
ENST00000003084.10:c.4036_4042del	ENSP00000003084.6:p.Leu1346MetfsTer6
ENST00000426809.5:c.3946_3952del	ENSP00000389119.1:p.Leu1316MetfsTer6
ENST00000600166.1:c.162_168del
NM_000492.3:c.4036_4042del , LRG_663t1:c.4036_4042del	NP_000483.3:p.Leu1346MetfsTer6
XM_011515751.1:c.4126_4132del	XP_011514053.1:p.Leu1376MetfsTer6
XM_011515752.1:c.4126_4132del	XP_011514054.1:p.Leu1376MetfsTer6
XM_011515753.1:c.3793_3799del	XP_011514055.1:p.Leu1265MetfsTer6
XM_011515754.1:c.3793_3799del	XP_011514056.1:p.Leu1265MetfsTer6
NM_000492.4:c.4036_4042del MANE Select	NP_000483.3:p.Leu1346MetfsTer6