Canonical Allele Identifier: CA164947854

Gene: CFTR

Linked Data

• dbSNP Id: rs35722447
• MyVariant Identifiers: chr7:g.117232347del (hg19) ; chr7:g.117592293del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592293del , CM000669.2:g.117592293del	GRCh38
NC_000007.13:g.117232347del , CM000669.1:g.117232347del	GRCh37
NC_000007.12:g.117019583del	NCBI36
NG_016465.4:g.131510del , LRG_663:g.131510del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2126del	ENSP00000497673.2:p.Arg709GlnfsTer13
ENST00000647978.2:c.*1840del	ENSP00000497658.1:n.*1840del
ENST00000649781.2:c.1943del	ENSP00000497203.1:p.Arg648GlnfsTer13
ENST00000685018.2:c.2126del	ENSP00000510194.2:p.Arg709GlnfsTer13
ENST00000687278.2:c.2126del	ENSP00000509593.2:p.Arg709GlnfsTer13
ENST00000699585.1:c.2126del	ENSP00000514456.1:p.Arg709GlnfsTer13
ENST00000699598.1:c.2126del	ENSP00000514467.1:p.Arg709GlnfsTer13
ENST00000699599.1:c.2126del	ENSP00000514468.1:p.Arg709GlnfsTer13
ENST00000699600.1:c.2126del	ENSP00000514469.1:p.Arg709GlnfsTer13
ENST00000699601.1:c.*426del	ENSP00000514470.1:n.*426del
ENST00000699602.1:c.2126del	ENSP00000514471.1:p.Arg709GlnfsTer13
ENST00000699604.1:c.*1950del	ENSP00000514472.1:n.*1950del
ENST00000699605.1:c.1700del	ENSP00000514473.1:p.Arg567GlnfsTer13
ENST00000003084.11:c.2126del MANE Select	ENSP00000003084.6:p.Arg709GlnfsTer13
ENST00000647978.1:c.*1840del	ENSP00000497658.1:n.*1840del
ENST00000648260.1:c.1402-10533del	ENSP00000497957.1:n.1402-10533del
ENST00000649406.1:c.1943del	ENSP00000497965.1:p.Arg648GlnfsTer13
ENST00000649781.1:c.1943del	ENSP00000497203.1:p.Arg648GlnfsTer13
ENST00000003084.10:c.2126del	ENSP00000003084.6:p.Arg709GlnfsTer13
ENST00000426809.5:c.2036del	ENSP00000389119.1:p.Arg679GlnfsTer13
NM_000492.3:c.2126del , LRG_663t1:c.2126del	NP_000483.3:p.Arg709GlnfsTer13
XM_011515751.1:c.2216del	XP_011514053.1:p.Arg739GlnfsTer13
XM_011515752.1:c.2216del	XP_011514054.1:p.Arg739GlnfsTer13
XM_011515753.1:c.1883del	XP_011514055.1:p.Arg628GlnfsTer13
XM_011515754.1:c.1883del	XP_011514056.1:p.Arg628GlnfsTer13
NM_000492.4:c.2126del MANE Select	NP_000483.3:p.Arg709GlnfsTer13