Canonical Allele Identifier: CA10604357

Gene: CFTR

Linked Data

• ClinVar Variation Id: 282970
• ClinVar RCV Id: RCV000338955 ; RCV000757843
• dbSNP Id: rs886042527
• MyVariant Identifiers: chr7:g.117304777del (hg19) ; chr7:g.117664723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664723del , CM000669.2:g.117664723del	GRCh38
NC_000007.13:g.117304777del , CM000669.1:g.117304777del	GRCh37
NC_000007.12:g.117092013del	NCBI36
NG_016465.4:g.203940del , LRG_663:g.203940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*208del	ENSP00000497673.2:n.*208del
ENST00000647978.2:c.*3713del	ENSP00000497658.1:n.*3713del
ENST00000649781.2:c.3816del	ENSP00000497203.1:p.Lys1273SerfsTer13
ENST00000685018.2:c.*212del	ENSP00000510194.2:n.*212del
ENST00000687278.2:c.*652del	ENSP00000509593.2:n.*652del
ENST00000699585.1:c.*208del	ENSP00000514456.1:n.*208del
ENST00000699598.1:c.3999del	ENSP00000514467.1:p.Lys1334SerfsTer13
ENST00000699599.1:c.*212del	ENSP00000514468.1:n.*212del
ENST00000699600.1:c.*660del	ENSP00000514469.1:n.*660del
ENST00000699601.1:c.*2374del	ENSP00000514470.1:n.*2374del
ENST00000699602.1:c.3993del	ENSP00000514471.1:p.Lys1332SerfsTer13
ENST00000699604.1:c.*3823del	ENSP00000514472.1:n.*3823del
ENST00000699605.1:c.3573del	ENSP00000514473.1:p.Lys1192SerfsTer13
ENST00000699606.1:n.2167del
ENST00000685018.1:c.863del	ENSP00000510194.1:n.863del
ENST00000687278.1:c.1786del	ENSP00000509593.1:n.1786del
ENST00000689011.1:c.581del
ENST00000003084.11:c.3999del MANE Select	ENSP00000003084.6:p.Lys1334SerfsTer13
ENST00000647720.1:c.1449del
ENST00000649781.1:c.3816del	ENSP00000497203.1:p.Lys1273SerfsTer13
ENST00000003084.10:c.3999del	ENSP00000003084.6:p.Lys1334SerfsTer13
ENST00000426809.5:c.3909del	ENSP00000389119.1:p.Lys1304SerfsTer13
ENST00000600166.1:c.125del
NM_000492.3:c.3999del , LRG_663t1:c.3999del	NP_000483.3:p.Lys1334SerfsTer13
XM_011515751.1:c.4089del	XP_011514053.1:p.Lys1364SerfsTer13
XM_011515752.1:c.4089del	XP_011514054.1:p.Lys1364SerfsTer13
XM_011515753.1:c.3756del	XP_011514055.1:p.Lys1253SerfsTer13
XM_011515754.1:c.3756del	XP_011514056.1:p.Lys1253SerfsTer13
NM_000492.4:c.3999del MANE Select	NP_000483.3:p.Lys1334SerfsTer13