Canonical Allele Identifier: CA913189837

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618937
• ClinVar RCV Id: RCV000757840
• dbSNP Id: rs1562919371

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627622_117627623del , CM000669.2:g.117627622_117627623del	GRCh38
NC_000007.13:g.117267676_117267677del , CM000669.1:g.117267676_117267677del	GRCh37
NC_000007.12:g.117054912_117054913del	NCBI36
NG_016465.4:g.166839_166840del , LRG_663:g.166839_166840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+52_3517+53del	ENSP00000497673.2:n.3517+52_3517+53del
ENST00000647978.2:c.*3283_*3284del	ENSP00000497658.1:n.*3283_*3284del
ENST00000649781.2:c.3386_3387del	ENSP00000497203.1:p.Val1129AspfsTer4
ENST00000685018.2:c.3569_3570del	ENSP00000510194.2:p.Val1190AspfsTer4
ENST00000687278.2:c.*222_*223del	ENSP00000509593.2:n.*222_*223del
ENST00000699585.1:c.3517+52_3517+53del	ENSP00000514456.1:n.3517+52_3517+53del
ENST00000699598.1:c.3569_3570del	ENSP00000514467.1:p.Val1190AspfsTer4
ENST00000699599.1:c.3569_3570del	ENSP00000514468.1:p.Val1190AspfsTer4
ENST00000699600.1:c.*230_*231del	ENSP00000514469.1:n.*230_*231del
ENST00000699601.1:c.*1944_*1945del	ENSP00000514470.1:n.*1944_*1945del
ENST00000699602.1:c.3563_3564del	ENSP00000514471.1:p.Val1188AspfsTer4
ENST00000699604.1:c.*3393_*3394del	ENSP00000514472.1:n.*3393_*3394del
ENST00000699605.1:c.3143_3144del	ENSP00000514473.1:p.Val1048AspfsTer4
ENST00000685018.1:c.317_318del	ENSP00000510194.1:p.Val106AspfsTer4
ENST00000687278.1:c.1356_1357del	ENSP00000509593.1:n.1356_1357del
ENST00000689011.1:c.151_152del
ENST00000003084.11:c.3569_3570del MANE Select	ENSP00000003084.6:p.Val1190AspfsTer4
ENST00000647720.1:c.1167+52_1167+53del
ENST00000648260.1:c.2351_2352del	ENSP00000497957.1:p.Val784AspfsTer4
ENST00000649406.1:c.3386_3387del	ENSP00000497965.1:p.Val1129AspfsTer4
ENST00000649781.1:c.3386_3387del	ENSP00000497203.1:p.Val1129AspfsTer4
ENST00000003084.10:c.3569_3570del	ENSP00000003084.6:p.Val1190AspfsTer4
ENST00000426809.5:c.3479_3480del	ENSP00000389119.1:p.Val1160AspfsTer4
ENST00000468795.1:c.394_395del
NM_000492.3:c.3569_3570del , LRG_663t1:c.3569_3570del	NP_000483.3:p.Val1190AspfsTer4
XM_011515751.1:c.3659_3660del	XP_011514053.1:p.Val1220AspfsTer4
XM_011515752.1:c.3659_3660del	XP_011514054.1:p.Val1220AspfsTer4
XM_011515753.1:c.3326_3327del	XP_011514055.1:p.Val1109AspfsTer4
XM_011515754.1:c.3326_3327del	XP_011514056.1:p.Val1109AspfsTer4
NM_000492.4:c.3569_3570del MANE Select	NP_000483.3:p.Val1190AspfsTer4