Canonical Allele Identifier: CA164967779
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs121909001

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
ENST00000003084.11:c.1522_1524del MANE Select ENSP00000003084.6:p.Phe508del
ENST00000647978.1:c.*1236_*1238del ENSP00000497658.1:p.=
ENST00000648260.1:c.1339_1341del ENSP00000497957.1:p.Phe447del
ENST00000649406.1:c.1339_1341del ENSP00000497965.1:p.Phe447del
ENST00000649781.1:n.1339_1341del ENSP00000497203.1:p.Phe447del
ENST00000003084.10:c.1522_1524del ENSP00000003084.6:p.Phe508del
ENST00000426809.5:n.1432_1434del ENSP00000389119.1:p.Phe478del
NM_000492.3:c.1522_1524del , LRG_663t1:c.1522_1524del NP_000483.3:p.Phe508del
XM_011515751.1:c.1612_1614del XP_011514053.1:p.Phe538del
XM_011515752.1:c.1612_1614del XP_011514054.1:p.Phe538del
XM_011515753.1:c.1279_1281del XP_011514055.1:p.Phe427del
XM_011515754.1:c.1279_1281del XP_011514056.1:p.Phe427del
NR_149084.1:n.221+1138_221+1140del
NM_000492.4:c.1522_1524del MANE Select NP_000483.3:p.Phe508del