Canonical Allele Identifier: CA658822506

Gene: CFTR

Linked Data

• ClinVar Variation Id: 555396
• ClinVar RCV Id: RCV000671213
• dbSNP Id: rs1554391454
• MyVariant Identifiers: chr7:g.117606681_117606717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606681_117606717del , CM000669.2:g.117606681_117606717del	GRCh38
NC_000007.13:g.117246735_117246771del , CM000669.1:g.117246735_117246771del	GRCh37
NC_000007.12:g.117033971_117034007del	NCBI36
NG_016465.4:g.145898_145934del , LRG_663:g.145898_145934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2916_2952del	ENSP00000497673.2:p.Ile972MetfsTer16
ENST00000647978.2:c.*2630_*2666del	ENSP00000497658.1:n.*2630_*2666del
ENST00000649781.2:c.2733_2769del	ENSP00000497203.1:p.Ile911MetfsTer16
ENST00000685018.2:c.2916_2952del	ENSP00000510194.2:p.Ile972MetfsTer16
ENST00000687278.2:c.2916_2952del	ENSP00000509593.2:p.Ile972MetfsTer16
ENST00000699585.1:c.2916_2952del	ENSP00000514456.1:p.Ile972MetfsTer16
ENST00000699598.1:c.2916_2952del	ENSP00000514467.1:p.Ile972MetfsTer16
ENST00000699599.1:c.2916_2952del	ENSP00000514468.1:p.Ile972MetfsTer16
ENST00000699600.1:c.2916_2952del	ENSP00000514469.1:p.Ile972MetfsTer16
ENST00000699601.1:c.*1216_*1252del	ENSP00000514470.1:n.*1216_*1252del
ENST00000699602.1:c.2916_2952del	ENSP00000514471.1:p.Ile972MetfsTer16
ENST00000699604.1:c.*2740_*2776del	ENSP00000514472.1:n.*2740_*2776del
ENST00000699605.1:c.2490_2526del	ENSP00000514473.1:p.Ile830MetfsTer16
ENST00000687278.1:c.507_543del	ENSP00000509593.1:p.Ile169MetfsTer16
ENST00000003084.11:c.2916_2952del MANE Select	ENSP00000003084.6:p.Ile972MetfsTer16
ENST00000647720.1:c.566_602del
ENST00000648260.1:c.1698_1734del	ENSP00000497957.1:p.Ile566MetfsTer16
ENST00000649406.1:c.2733_2769del	ENSP00000497965.1:p.Ile911MetfsTer16
ENST00000649781.1:c.2733_2769del	ENSP00000497203.1:p.Ile911MetfsTer16
ENST00000003084.10:c.2916_2952del	ENSP00000003084.6:p.Ile972MetfsTer16
ENST00000426809.5:c.2826_2862del	ENSP00000389119.1:p.Ile942MetfsTer16
NM_000492.3:c.2916_2952del , LRG_663t1:c.2916_2952del	NP_000483.3:p.Ile972MetfsTer16
XM_011515751.1:c.3006_3042del	XP_011514053.1:p.Ile1002MetfsTer16
XM_011515752.1:c.3006_3042del	XP_011514054.1:p.Ile1002MetfsTer16
XM_011515753.1:c.2673_2709del	XP_011514055.1:p.Ile891MetfsTer16
XM_011515754.1:c.2673_2709del	XP_011514056.1:p.Ile891MetfsTer16
NM_000492.4:c.2916_2952del MANE Select	NP_000483.3:p.Ile972MetfsTer16