Canonical Allele Identifier: CA326753

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53443
• ClinVar RCV Id: RCV001009462
• dbSNP Id: rs397508344
• MyVariant Identifiers: chr7:g.117232366_117232367delinsGT (hg19) ; chr7:g.117592312_117592313delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592312_117592313delinsGT , CM000669.2:g.117592312_117592313delinsGT	GRCh38
NC_000007.13:g.117232366_117232367delinsGT , CM000669.1:g.117232366_117232367delinsGT	GRCh37
NC_000007.12:g.117019602_117019603delinsGT	NCBI36
NG_016465.4:g.131529_131530delinsGT , LRG_663:g.131529_131530delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2145_2146delinsGT	ENSP00000497673.2:p.Gln716Ter
ENST00000647978.2:c.*1859_*1860delinsGT	ENSP00000497658.1:n.*1859_*1860delinsGT
ENST00000649781.2:c.1962_1963delinsGT	ENSP00000497203.1:p.Gln655Ter
ENST00000685018.2:c.2145_2146delinsGT	ENSP00000510194.2:p.Gln716Ter
ENST00000687278.2:c.2145_2146delinsGT	ENSP00000509593.2:p.Gln716Ter
ENST00000699585.1:c.2145_2146delinsGT	ENSP00000514456.1:p.Gln716Ter
ENST00000699598.1:c.2145_2146delinsGT	ENSP00000514467.1:p.Gln716Ter
ENST00000699599.1:c.2145_2146delinsGT	ENSP00000514468.1:p.Gln716Ter
ENST00000699600.1:c.2145_2146delinsGT	ENSP00000514469.1:p.Gln716Ter
ENST00000699601.1:c.*445_*446delinsGT	ENSP00000514470.1:n.*445_*446delinsGT
ENST00000699602.1:c.2145_2146delinsGT	ENSP00000514471.1:p.Gln716Ter
ENST00000699604.1:c.*1969_*1970delinsGT	ENSP00000514472.1:n.*1969_*1970delinsGT
ENST00000699605.1:c.1719_1720delinsGT	ENSP00000514473.1:p.Gln574Ter
ENST00000003084.11:c.2145_2146delinsGT MANE Select	ENSP00000003084.6:p.Gln716Ter
ENST00000647978.1:c.*1859_*1860delinsGT	ENSP00000497658.1:n.*1859_*1860delinsGT
ENST00000648260.1:c.1402-10514_1402-10513delinsGT	ENSP00000497957.1:n.1402-10514_1402-10513...
ENST00000649406.1:c.1962_1963delinsGT	ENSP00000497965.1:p.Gln655Ter
ENST00000649781.1:c.1962_1963delinsGT	ENSP00000497203.1:p.Gln655Ter
ENST00000003084.10:c.2145_2146delinsGT	ENSP00000003084.6:p.Gln716Ter
ENST00000426809.5:c.2055_2056delinsGT	ENSP00000389119.1:p.Gln686Ter
NM_000492.3:c.2145_2146delinsGT , LRG_663t1:c.2145_2146delinsGT	NP_000483.3:p.Gln716Ter
XM_011515751.1:c.2235_2236delinsGT	XP_011514053.1:p.Gln746Ter
XM_011515752.1:c.2235_2236delinsGT	XP_011514054.1:p.Gln746Ter
XM_011515753.1:c.1902_1903delinsGT	XP_011514055.1:p.Gln635Ter
XM_011515754.1:c.1902_1903delinsGT	XP_011514056.1:p.Gln635Ter
NM_000492.4:c.2145_2146delinsGT MANE Select	NP_000483.3:p.Gln716Ter