Canonical Allele Identifier: CA326493
Gene: CFTR HGNC NCBI
CFTR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs397508212
gnomAD v4: 7-117559539-TTC-T
MyVariant Identifiers: chr7:g.117199594_117199595del (hg19) chr7:g.117559540_117559541del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559541_117559542del , CM000669.2:g.117559541_117559542del GRCh38
NC_000007.13:g.117199595_117199596del , CM000669.1:g.117199595_117199596del GRCh37
NC_000007.12:g.116986831_116986832del NCBI36
NG_016465.4:g.98758_98759del , LRG_663:g.98758_98759del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1470_1471del (CFTR) ENSP00000497673.2:p.Phe490LeufsTer13
ENST00000647978.2:c.*1184_*1185del (CFTR) ENSP00000497658.1:n.*1184_*1185del
ENST00000649781.2:c.1287_1288del (CFTR) ENSP00000497203.1:p.Phe429LeufsTer13
ENST00000685018.2:c.1470_1471del (CFTR) ENSP00000510194.2:p.Phe490LeufsTer13
ENST00000687278.2:c.1470_1471del (CFTR) ENSP00000509593.2:p.Phe490LeufsTer13
ENST00000699585.1:c.1470_1471del (CFTR) ENSP00000514456.1:p.Phe490LeufsTer13
ENST00000699596.1:c.1470_1471del (CFTR) ENSP00000514465.1:p.Phe490LeufsTer13
ENST00000699597.1:c.*28_*29del (CFTR) ENSP00000514466.1:n.*28_*29del
ENST00000699598.1:c.1470_1471del (CFTR) ENSP00000514467.1:p.Phe490LeufsTer13
ENST00000699599.1:c.1470_1471del (CFTR) ENSP00000514468.1:p.Phe490LeufsTer13
ENST00000699600.1:c.1470_1471del (CFTR) ENSP00000514469.1:p.Phe490LeufsTer13
ENST00000699601.1:c.1470_1471del (CFTR) ENSP00000514470.1:p.Phe490LeufsTer13
ENST00000699602.1:c.1470_1471del (CFTR) ENSP00000514471.1:p.Phe490LeufsTer13
ENST00000699604.1:c.*1294_*1295del (CFTR) ENSP00000514472.1:n.*1294_*1295del
ENST00000699605.1:c.1044_1045del (CFTR) ENSP00000514473.1:p.Phe348LeufsTer13
ENST00000003084.11:c.1470_1471del (CFTR) MANE Select ENSP00000003084.6:p.Phe490LeufsTer13
ENST00000647978.1:c.*1184_*1185del (CFTR) ENSP00000497658.1:n.*1184_*1185del
ENST00000648260.1:c.1287_1288del (CFTR) ENSP00000497957.1:p.Phe429LeufsTer13
ENST00000649406.1:c.1287_1288del (CFTR) ENSP00000497965.1:p.Phe429LeufsTer13
ENST00000649781.1:c.1287_1288del (CFTR) ENSP00000497203.1:p.Phe429LeufsTer13
ENST00000003084.10:c.1470_1471del (CFTR) ENSP00000003084.6:p.Phe490LeufsTer13
ENST00000426809.5:c.1380_1381del (CFTR) ENSP00000389119.1:p.Phe460LeufsTer13
NM_000492.3:c.1470_1471del , LRG_663t1:c.1470_1471del (CFTR) NP_000483.3:p.Phe490LeufsTer13
XM_011515751.1:c.1560_1561del (CFTR) XP_011514053.1:p.Phe520LeufsTer13
XM_011515752.1:c.1560_1561del (CFTR) XP_011514054.1:p.Phe520LeufsTer13
XM_011515753.1:c.1227_1228del (CFTR) XP_011514055.1:p.Phe409LeufsTer13
XM_011515754.1:c.1227_1228del (CFTR) XP_011514056.1:p.Phe409LeufsTer13
NR_149084.1:n.221+1192_221+1193del (CFTR-AS1)
NM_000492.4:c.1470_1471del (CFTR) MANE Select NP_000483.3:p.Phe490LeufsTer13
Search 100 bp 5'
Search 100 bp 3'