Canonical Allele Identifier: CA327301

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53818
• ClinVar RCV Id: RCV000577107
• dbSNP Id: rs397508614
• MyVariant Identifiers: chr7:g.117282603del (hg19) ; chr7:g.117642549del (hg38)
• PubMed: PMID:15365999

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642549del , CM000669.2:g.117642549del	GRCh38
NC_000007.13:g.117282603del , CM000669.1:g.117282603del	GRCh37
NC_000007.12:g.117069839del	NCBI36
NG_016465.4:g.181766del , LRG_663:g.181766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*38del	ENSP00000497673.2:n.*38del
ENST00000647978.2:c.*3543del	ENSP00000497658.1:n.*3543del
ENST00000649781.2:c.3646del	ENSP00000497203.1:p.Ile1216Ter
ENST00000685018.2:c.3829del	ENSP00000510194.2:p.Ile1277Ter
ENST00000687278.2:c.*482del	ENSP00000509593.2:n.*482del
ENST00000699585.1:c.*38del	ENSP00000514456.1:n.*38del
ENST00000699598.1:c.3829del	ENSP00000514467.1:p.Ile1277Ter
ENST00000699599.1:c.3829del	ENSP00000514468.1:p.Ile1277Ter
ENST00000699600.1:c.*490del	ENSP00000514469.1:n.*490del
ENST00000699601.1:c.*2204del	ENSP00000514470.1:n.*2204del
ENST00000699602.1:c.3823del	ENSP00000514471.1:p.Ile1275Ter
ENST00000699604.1:c.*3653del	ENSP00000514472.1:n.*3653del
ENST00000699605.1:c.3403del	ENSP00000514473.1:p.Ile1135Ter
ENST00000685018.1:c.577del	ENSP00000510194.1:p.Ile193Ter
ENST00000687278.1:c.1616del	ENSP00000509593.1:n.1616del
ENST00000689011.1:c.411del
ENST00000003084.11:c.3829del MANE Select	ENSP00000003084.6:p.Ile1277Ter
ENST00000647720.1:c.1279del
ENST00000649781.1:c.3646del	ENSP00000497203.1:p.Ile1216Ter
ENST00000003084.10:c.3829del	ENSP00000003084.6:p.Ile1277Ter
ENST00000426809.5:c.3739del	ENSP00000389119.1:p.Ile1247Ter
NM_000492.3:c.3829del , LRG_663t1:c.3829del	NP_000483.3:p.Ile1277Ter
XM_011515751.1:c.3919del	XP_011514053.1:p.Ile1307Ter
XM_011515752.1:c.3919del	XP_011514054.1:p.Ile1307Ter
XM_011515753.1:c.3586del	XP_011514055.1:p.Ile1196Ter
XM_011515754.1:c.3586del	XP_011514056.1:p.Ile1196Ter
NM_000492.4:c.3829del MANE Select	NP_000483.3:p.Ile1277Ter