Canonical Allele Identifier: CA658821705

Gene: CFTR

Linked Data

• ClinVar Variation Id: 551804
• ClinVar RCV Id: RCV000666949
• dbSNP Id: rs1554397593
• MyVariant Identifiers: chr7:g.117665521del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665521del , CM000669.2:g.117665521del	GRCh38
NC_000007.13:g.117305575del , CM000669.1:g.117305575del	GRCh37
NC_000007.12:g.117092811del	NCBI36
NG_016465.4:g.204738del , LRG_663:g.204738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*408del	ENSP00000497673.2:n.*408del
ENST00000647978.2:c.*3913del	ENSP00000497658.1:n.*3913del
ENST00000649781.2:c.4016del	ENSP00000497203.1:p.Cys1339LeufsTer5
ENST00000685018.2:c.*412del	ENSP00000510194.2:n.*412del
ENST00000687278.2:c.*852del	ENSP00000509593.2:n.*852del
ENST00000699585.1:c.*408del	ENSP00000514456.1:n.*408del
ENST00000699598.1:c.4199del	ENSP00000514467.1:p.Cys1400LeufsTer5
ENST00000699599.1:c.*412del	ENSP00000514468.1:n.*412del
ENST00000699600.1:c.*860del	ENSP00000514469.1:n.*860del
ENST00000699601.1:c.*2574del	ENSP00000514470.1:n.*2574del
ENST00000699602.1:c.4193del	ENSP00000514471.1:p.Cys1398LeufsTer5
ENST00000699604.1:c.*4023del	ENSP00000514472.1:n.*4023del
ENST00000699605.1:c.3773del	ENSP00000514473.1:p.Cys1258LeufsTer5
ENST00000699606.1:n.2367del
ENST00000685018.1:c.1063del	ENSP00000510194.1:n.1063del
ENST00000687278.1:c.1986del	ENSP00000509593.1:n.1986del
ENST00000689011.1:c.781del
ENST00000003084.11:c.4199del MANE Select	ENSP00000003084.6:p.Cys1400LeufsTer5
ENST00000647720.1:c.1649del
ENST00000649781.1:c.4016del	ENSP00000497203.1:p.Cys1339LeufsTer5
ENST00000003084.10:c.4199del	ENSP00000003084.6:p.Cys1400LeufsTer5
ENST00000426809.5:c.4109del	ENSP00000389119.1:p.Cys1370LeufsTer5
ENST00000600166.1:c.325del
NM_000492.3:c.4199del , LRG_663t1:c.4199del	NP_000483.3:p.Cys1400LeufsTer5
XM_011515751.1:c.4289del	XP_011514053.1:p.Cys1430LeufsTer5
XM_011515752.1:c.4289del	XP_011514054.1:p.Cys1430LeufsTer5
XM_011515753.1:c.3956del	XP_011514055.1:p.Cys1319LeufsTer5
XM_011515754.1:c.3956del	XP_011514056.1:p.Cys1319LeufsTer5
NM_000492.4:c.4199del MANE Select	NP_000483.3:p.Cys1400LeufsTer5