Canonical Allele Identifier: CA658822500

Gene: CFTR

Linked Data

• ClinVar Variation Id: 550111
• ClinVar RCV Id: RCV000664753
• dbSNP Id: rs1554389478
• MyVariant Identifiers: chr7:g.117592597_117592599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592597_117592599del , CM000669.2:g.117592597_117592599del	GRCh38
NC_000007.13:g.117232651_117232653del , CM000669.1:g.117232651_117232653del	GRCh37
NC_000007.12:g.117019887_117019889del	NCBI36
NG_016465.4:g.131814_131816del , LRG_663:g.131814_131816del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2430_2432del	ENSP00000497673.2:p.Arg811del
ENST00000647978.2:c.*2144_*2146del	ENSP00000497658.1:n.*2144_*2146del
ENST00000649781.2:c.2247_2249del	ENSP00000497203.1:p.Arg750del
ENST00000685018.2:c.2430_2432del	ENSP00000510194.2:p.Arg811del
ENST00000687278.2:c.2430_2432del	ENSP00000509593.2:p.Arg811del
ENST00000699585.1:c.2430_2432del	ENSP00000514456.1:p.Arg811del
ENST00000699598.1:c.2430_2432del	ENSP00000514467.1:p.Arg811del
ENST00000699599.1:c.2430_2432del	ENSP00000514468.1:p.Arg811del
ENST00000699600.1:c.2430_2432del	ENSP00000514469.1:p.Arg811del
ENST00000699601.1:c.*730_*732del	ENSP00000514470.1:n.*730_*732del
ENST00000699602.1:c.2430_2432del	ENSP00000514471.1:p.Arg811del
ENST00000699604.1:c.*2254_*2256del	ENSP00000514472.1:n.*2254_*2256del
ENST00000699605.1:c.2004_2006del	ENSP00000514473.1:p.Arg669del
ENST00000687278.1:c.21_23del	ENSP00000509593.1:p.Arg8del
ENST00000003084.11:c.2430_2432del MANE Select	ENSP00000003084.6:p.Arg811del
ENST00000647720.1:c.80_82del
ENST00000647978.1:c.*2144_*2146del	ENSP00000497658.1:n.*2144_*2146del
ENST00000648260.1:c.1402-10229_1402-10227del	ENSP00000497957.1:n.1402-10229_1402-10227...
ENST00000649406.1:c.2247_2249del	ENSP00000497965.1:p.Arg750del
ENST00000649781.1:c.2247_2249del	ENSP00000497203.1:p.Arg750del
ENST00000003084.10:c.2430_2432del	ENSP00000003084.6:p.Arg811del
ENST00000426809.5:c.2340_2342del	ENSP00000389119.1:p.Arg781del
NM_000492.3:c.2430_2432del , LRG_663t1:c.2430_2432del	NP_000483.3:p.Arg811del
XM_011515751.1:c.2520_2522del	XP_011514053.1:p.Arg841del
XM_011515752.1:c.2520_2522del	XP_011514054.1:p.Arg841del
XM_011515753.1:c.2187_2189del	XP_011514055.1:p.Arg730del
XM_011515754.1:c.2187_2189del	XP_011514056.1:p.Arg730del
NM_000492.4:c.2430_2432del MANE Select	NP_000483.3:p.Arg811del