Canonical Allele Identifier: CA164967779
Gene: CFTR HGNC NCBI
CFTR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs121909001
MyVariant Identifiers: chr7:g.117199647_117199649del (hg19) chr7:g.117559593_117559595del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559593_117559595del , CM000669.2:g.117559593_117559595del GRCh38
NC_000007.13:g.117199647_117199649del , CM000669.1:g.117199647_117199649del GRCh37
NC_000007.12:g.116986883_116986885del NCBI36
NG_016465.4:g.98810_98812del , LRG_663:g.98810_98812del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1522_1524del (CFTR) ENSP00000497673.2:p.Phe508del
ENST00000647978.2:c.*1236_*1238del (CFTR) ENSP00000497658.1:n.*1236_*1238del
ENST00000649781.2:c.1339_1341del (CFTR) ENSP00000497203.1:p.Phe447del
ENST00000685018.2:c.1522_1524del (CFTR) ENSP00000510194.2:p.Phe508del
ENST00000687278.2:c.1522_1524del (CFTR) ENSP00000509593.2:p.Phe508del
ENST00000699585.1:c.1522_1524del (CFTR) ENSP00000514456.1:p.Phe508del
ENST00000699596.1:c.1522_1524del (CFTR) ENSP00000514465.1:p.Phe508del
ENST00000699597.1:c.*80_*82del (CFTR) ENSP00000514466.1:n.*80_*82del
ENST00000699598.1:c.1522_1524del (CFTR) ENSP00000514467.1:p.Phe508del
ENST00000699599.1:c.1522_1524del (CFTR) ENSP00000514468.1:p.Phe508del
ENST00000699600.1:c.1522_1524del (CFTR) ENSP00000514469.1:p.Phe508del
ENST00000699601.1:c.1522_1524del (CFTR) ENSP00000514470.1:p.Phe508del
ENST00000699602.1:c.1522_1524del (CFTR) ENSP00000514471.1:p.Phe508del
ENST00000699604.1:c.*1346_*1348del (CFTR) ENSP00000514472.1:n.*1346_*1348del
ENST00000699605.1:c.1096_1098del (CFTR) ENSP00000514473.1:p.Phe366del
ENST00000003084.11:c.1522_1524del (CFTR) MANE Select ENSP00000003084.6:p.Phe508del
ENST00000647978.1:c.*1236_*1238del (CFTR) ENSP00000497658.1:n.*1236_*1238del
ENST00000648260.1:c.1339_1341del (CFTR) ENSP00000497957.1:p.Phe447del
ENST00000649406.1:c.1339_1341del (CFTR) ENSP00000497965.1:p.Phe447del
ENST00000649781.1:c.1339_1341del (CFTR) ENSP00000497203.1:p.Phe447del
ENST00000003084.10:c.1522_1524del (CFTR) ENSP00000003084.6:p.Phe508del
ENST00000426809.5:c.1432_1434del (CFTR) ENSP00000389119.1:p.Phe478del
NM_000492.3:c.1522_1524del , LRG_663t1:c.1522_1524del (CFTR) NP_000483.3:p.Phe508del
XM_011515751.1:c.1612_1614del (CFTR) XP_011514053.1:p.Phe538del
XM_011515752.1:c.1612_1614del (CFTR) XP_011514054.1:p.Phe538del
XM_011515753.1:c.1279_1281del (CFTR) XP_011514055.1:p.Phe427del
XM_011515754.1:c.1279_1281del (CFTR) XP_011514056.1:p.Phe427del
NR_149084.1:n.221+1138_221+1140del (CFTR-AS1)
NM_000492.4:c.1522_1524del (CFTR) MANE Select NP_000483.3:p.Phe508del
Search 100 bp 5'
Search 100 bp 3'