Canonical Allele Identifier: CA326947
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53581
ClinVar RCV Id: RCV000046704 RCV001826649
dbSNP Id: rs397508445
gnomAD v2: 7-117243786-TACATTCTGTTCTTCAAGCACCTATGTCAACCC-T
MyVariant Identifiers: chr7:g.117243787_117243818del (hg19) chr7:g.117603733_117603764del (hg38)
PubMed: PMID:23974870
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603733_117603764del , CM000669.2:g.117603733_117603764del GRCh38
NC_000007.13:g.117243787_117243818del , CM000669.1:g.117243787_117243818del GRCh37
NC_000007.12:g.117031023_117031054del NCBI36
NG_016465.4:g.142950_142981del , LRG_663:g.142950_142981del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2859_2890del ENSP00000497673.2:p.Leu953PhefsTer11
ENST00000647978.2:c.*2573_*2604del ENSP00000497658.1:n.*2573_*2604del
ENST00000649781.2:c.2676_2707del ENSP00000497203.1:p.Leu892PhefsTer11
ENST00000685018.2:c.2859_2890del ENSP00000510194.2:p.Leu953PhefsTer11
ENST00000687278.2:c.2859_2890del ENSP00000509593.2:p.Leu953PhefsTer11
ENST00000699585.1:c.2859_2890del ENSP00000514456.1:p.Leu953PhefsTer11
ENST00000699598.1:c.2859_2890del ENSP00000514467.1:p.Leu953PhefsTer11
ENST00000699599.1:c.2859_2890del ENSP00000514468.1:p.Leu953PhefsTer11
ENST00000699600.1:c.2859_2890del ENSP00000514469.1:p.Leu953PhefsTer11
ENST00000699601.1:c.*1159_*1190del ENSP00000514470.1:n.*1159_*1190del
ENST00000699602.1:c.2859_2890del ENSP00000514471.1:p.Leu953PhefsTer11
ENST00000699604.1:c.*2683_*2714del ENSP00000514472.1:n.*2683_*2714del
ENST00000699605.1:c.2433_2464del ENSP00000514473.1:p.Leu811PhefsTer11
ENST00000687278.1:c.450_481del ENSP00000509593.1:p.Leu150PhefsTer11
ENST00000003084.11:c.2859_2890del MANE Select ENSP00000003084.6:p.Leu953PhefsTer11
ENST00000647720.1:c.509_540del
ENST00000648260.1:c.1641_1672del ENSP00000497957.1:p.Leu547PhefsTer11
ENST00000649406.1:c.2676_2707del ENSP00000497965.1:p.Leu892PhefsTer11
ENST00000649781.1:c.2676_2707del ENSP00000497203.1:p.Leu892PhefsTer11
ENST00000003084.10:c.2859_2890del ENSP00000003084.6:p.Leu953PhefsTer11
ENST00000426809.5:c.2769_2800del ENSP00000389119.1:p.Leu923PhefsTer11
NM_000492.3:c.2859_2890del , LRG_663t1:c.2859_2890del NP_000483.3:p.Leu953PhefsTer11
XM_011515751.1:c.2949_2980del XP_011514053.1:p.Leu983PhefsTer11
XM_011515752.1:c.2949_2980del XP_011514054.1:p.Leu983PhefsTer11
XM_011515753.1:c.2616_2647del XP_011514055.1:p.Leu872PhefsTer11
XM_011515754.1:c.2616_2647del XP_011514056.1:p.Leu872PhefsTer11
NM_000492.4:c.2859_2890del MANE Select NP_000483.3:p.Leu953PhefsTer11
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