Canonical Allele Identifier: CA326926

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53567
• ClinVar RCV Id: RCV000577620
• dbSNP Id: rs397508433
• MyVariant Identifiers: chr7:g.117243705del (hg19) ; chr7:g.117603651del (hg38)
• PubMed: PMID:1709778

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603651del , CM000669.2:g.117603651del	GRCh38
NC_000007.13:g.117243705del , CM000669.1:g.117243705del	GRCh37
NC_000007.12:g.117030941del	NCBI36
NG_016465.4:g.142868del , LRG_663:g.142868del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2777del	ENSP00000497673.2:p.Leu926CysfsTer16
ENST00000647978.2:c.*2491del	ENSP00000497658.1:n.*2491del
ENST00000649781.2:c.2594del	ENSP00000497203.1:p.Leu865CysfsTer16
ENST00000685018.2:c.2777del	ENSP00000510194.2:p.Leu926CysfsTer16
ENST00000687278.2:c.2777del	ENSP00000509593.2:p.Leu926CysfsTer16
ENST00000699585.1:c.2777del	ENSP00000514456.1:p.Leu926CysfsTer16
ENST00000699598.1:c.2777del	ENSP00000514467.1:p.Leu926CysfsTer16
ENST00000699599.1:c.2777del	ENSP00000514468.1:p.Leu926CysfsTer16
ENST00000699600.1:c.2777del	ENSP00000514469.1:p.Leu926CysfsTer16
ENST00000699601.1:c.*1077del	ENSP00000514470.1:n.*1077del
ENST00000699602.1:c.2777del	ENSP00000514471.1:p.Leu926CysfsTer16
ENST00000699604.1:c.*2601del	ENSP00000514472.1:n.*2601del
ENST00000699605.1:c.2351del	ENSP00000514473.1:p.Leu784CysfsTer16
ENST00000687278.1:c.368del	ENSP00000509593.1:p.Leu123CysfsTer16
ENST00000003084.11:c.2777del MANE Select	ENSP00000003084.6:p.Leu926CysfsTer16
ENST00000647720.1:c.427del
ENST00000648260.1:c.1559del	ENSP00000497957.1:p.Leu520CysfsTer16
ENST00000649406.1:c.2594del	ENSP00000497965.1:p.Leu865CysfsTer16
ENST00000649781.1:c.2594del	ENSP00000497203.1:p.Leu865CysfsTer16
ENST00000003084.10:c.2777del	ENSP00000003084.6:p.Leu926CysfsTer16
ENST00000426809.5:c.2687del	ENSP00000389119.1:p.Leu896CysfsTer16
NM_000492.3:c.2777del , LRG_663t1:c.2777del	NP_000483.3:p.Leu926CysfsTer16
XM_011515751.1:c.2867del	XP_011514053.1:p.Leu956CysfsTer16
XM_011515752.1:c.2867del	XP_011514054.1:p.Leu956CysfsTer16
XM_011515753.1:c.2534del	XP_011514055.1:p.Leu845CysfsTer16
XM_011515754.1:c.2534del	XP_011514056.1:p.Leu845CysfsTer16
NM_000492.4:c.2777del MANE Select	NP_000483.3:p.Leu926CysfsTer16