Canonical Allele Identifier: CA577221924

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2051209
• ClinVar RCV Id: RCV002922369
• dbSNP Id: rs1269055866
• gnomAD v2: 7-117227892-ATAAC-A
• gnomAD v3: 7-117587838-ATAAC-A
• gnomAD v4: 7-117587838-ATAAC-A
• MyVariant Identifiers: chr7:g.117227893_117227896del (hg19) ; chr7:g.117587839_117587842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587842_117587845del , CM000669.2:g.117587842_117587845del	GRCh38
NC_000007.13:g.117227896_117227899del , CM000669.1:g.117227896_117227899del	GRCh37
NC_000007.12:g.117015132_117015135del	NCBI36
NG_016465.4:g.127059_127062del , LRG_663:g.127059_127062del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1679+9_1679+12del	ENSP00000497673.2:n.1679+9_1679+12del
ENST00000647978.2:c.*1393+9_*1393+12del	ENSP00000497658.1:n.*1393+9_*1393+12del
ENST00000649781.2:c.1496+9_1496+12del	ENSP00000497203.1:n.1496+9_1496+12del
ENST00000685018.2:c.1679+9_1679+12del	ENSP00000510194.2:n.1679+9_1679+12del
ENST00000687278.2:c.1679+9_1679+12del	ENSP00000509593.2:n.1679+9_1679+12del
ENST00000699585.1:c.1679+9_1679+12del	ENSP00000514456.1:n.1679+9_1679+12del
ENST00000699598.1:c.1679+9_1679+12del	ENSP00000514467.1:n.1679+9_1679+12del
ENST00000699599.1:c.1679+9_1679+12del	ENSP00000514468.1:n.1679+9_1679+12del
ENST00000699600.1:c.1679+9_1679+12del	ENSP00000514469.1:n.1679+9_1679+12del
ENST00000699601.1:c.1679+9_1679+12del	ENSP00000514470.1:n.1679+9_1679+12del
ENST00000699602.1:c.1679+9_1679+12del	ENSP00000514471.1:n.1679+9_1679+12del
ENST00000699604.1:c.*1503+9_*1503+12del	ENSP00000514472.1:n.*1503+9_*1503+12del
ENST00000699605.1:c.1253+9_1253+12del	ENSP00000514473.1:n.1253+9_1253+12del
ENST00000003084.11:c.1679+9_1679+12del MANE Select	ENSP00000003084.6:n.1679+9_1679+12del
ENST00000647978.1:c.*1393+9_*1393+12del	ENSP00000497658.1:n.*1393+9_*1393+12del
ENST00000648260.1:c.1402-14984_1402-14981del	ENSP00000497957.1:n.1402-14984_1402-14981...
ENST00000649406.1:c.1496+9_1496+12del	ENSP00000497965.1:n.1496+9_1496+12del
ENST00000649781.1:c.1496+9_1496+12del	ENSP00000497203.1:n.1496+9_1496+12del
ENST00000003084.10:c.1679+9_1679+12del	ENSP00000003084.6:n.1679+9_1679+12del
ENST00000426809.5:c.1589+9_1589+12del	ENSP00000389119.1:n.1589+9_1589+12del
NM_000492.3:c.1679+9_1679+12del , LRG_663t1:c.1679+9_1679+12del	NP_000483.3:n.1679+9_1679+12del
XM_011515751.1:c.1769+9_1769+12del	XP_011514053.1:n.1769+9_1769+12del
XM_011515752.1:c.1769+9_1769+12del	XP_011514054.1:n.1769+9_1769+12del
XM_011515753.1:c.1436+9_1436+12del	XP_011514055.1:n.1436+9_1436+12del
XM_011515754.1:c.1436+9_1436+12del	XP_011514056.1:n.1436+9_1436+12del
NM_000492.4:c.1679+9_1679+12del MANE Select	NP_000483.3:n.1679+9_1679+12del