Canonical Allele Identifier: CA164946441

Gene: CFTR

Linked Data

• dbSNP Id: rs34347530
• MyVariant Identifiers: chr7:g.117230462_117230463insC (hg19) ; chr7:g.117590408_117590409insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590408_117590409insC , CM000669.2:g.117590408_117590409insC	GRCh38
NC_000007.13:g.117230462_117230463insC , CM000669.1:g.117230462_117230463insC	GRCh37
NC_000007.12:g.117017698_117017699insC	NCBI36
NG_016465.4:g.129625_129626insC , LRG_663:g.129625_129626insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1735_1736insC	ENSP00000497673.2:p.Asp579AlafsTer10
ENST00000647978.2:c.*1449_*1450insC	ENSP00000497658.1:n.*1449_*1450insC
ENST00000649781.2:c.1552_1553insC	ENSP00000497203.1:p.Asp518AlafsTer10
ENST00000685018.2:c.1735_1736insC	ENSP00000510194.2:p.Asp579AlafsTer10
ENST00000687278.2:c.1735_1736insC	ENSP00000509593.2:p.Asp579AlafsTer10
ENST00000699585.1:c.1735_1736insC	ENSP00000514456.1:p.Asp579AlafsTer10
ENST00000699598.1:c.1735_1736insC	ENSP00000514467.1:p.Asp579AlafsTer10
ENST00000699599.1:c.1735_1736insC	ENSP00000514468.1:p.Asp579AlafsTer10
ENST00000699600.1:c.1735_1736insC	ENSP00000514469.1:p.Asp579AlafsTer10
ENST00000699601.1:c.*35_*36insC	ENSP00000514470.1:n.*35_*36insC
ENST00000699602.1:c.1735_1736insC	ENSP00000514471.1:p.Asp579AlafsTer10
ENST00000699604.1:c.*1559_*1560insC	ENSP00000514472.1:n.*1559_*1560insC
ENST00000699605.1:c.1309_1310insC	ENSP00000514473.1:p.Asp437AlafsTer10
ENST00000003084.11:c.1735_1736insC MANE Select	ENSP00000003084.6:p.Asp579AlafsTer10
ENST00000647978.1:c.*1449_*1450insC	ENSP00000497658.1:n.*1449_*1450insC
ENST00000648260.1:c.1402-12418_1402-12417insC	ENSP00000497957.1:n.1402-12418_1402-12417...
ENST00000649406.1:c.1552_1553insC	ENSP00000497965.1:p.Asp518AlafsTer10
ENST00000649781.1:c.1552_1553insC	ENSP00000497203.1:p.Asp518AlafsTer10
ENST00000003084.10:c.1735_1736insC	ENSP00000003084.6:p.Asp579AlafsTer10
ENST00000426809.5:c.1645_1646insC	ENSP00000389119.1:p.Asp549AlafsTer10
NM_000492.3:c.1735_1736insC , LRG_663t1:c.1735_1736insC	NP_000483.3:p.Asp579AlafsTer10
XM_011515751.1:c.1825_1826insC	XP_011514053.1:p.Asp609AlafsTer10
XM_011515752.1:c.1825_1826insC	XP_011514054.1:p.Asp609AlafsTer10
XM_011515753.1:c.1492_1493insC	XP_011514055.1:p.Asp498AlafsTer10
XM_011515754.1:c.1492_1493insC	XP_011514056.1:p.Asp498AlafsTer10
NM_000492.4:c.1735_1736insC MANE Select	NP_000483.3:p.Asp579AlafsTer10