Canonical Allele Identifier: CA327397
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53887
ClinVar RCV Id: RCV000047072
dbSNP Id: rs397508672

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117531034del , CM000669.2:g.117531034del GRCh38
NC_000007.13:g.117171088del , CM000669.1:g.117171088del GRCh37
NC_000007.12:g.116958324del NCBI36
NG_016465.4:g.70251del , LRG_663:g.70251del

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.409del MANE Select ENSP00000003084.6:p.Leu137SerfsTer16
ENST00000647978.1:c.*306del ENSP00000497658.1:p.=
ENST00000648260.1:c.409del ENSP00000497957.1:p.Leu137SerfsTer16
ENST00000649406.1:c.409del ENSP00000497965.1:p.Leu137SerfsTer16
ENST00000649781.1:n.409del ENSP00000497203.1:p.Leu137SerfsTer16
ENST00000673785.1:c.166del ENSP00000501235.1:p.Leu56SerfsTer16
ENST00000003084.10:c.409del ENSP00000003084.6:p.Leu137SerfsTer16
ENST00000426809.5:n.409del ENSP00000389119.1:p.Leu137SerfsTer16
NM_000492.3:c.409del , LRG_663t1:c.409del NP_000483.3:p.Leu137SerfsTer16
XM_011515751.1:c.499del XP_011514053.1:p.Leu167SerfsTer16
XM_011515752.1:c.499del XP_011514054.1:p.Leu167SerfsTer16
XM_011515753.1:c.166del XP_011514055.1:p.Leu56SerfsTer16
XM_011515754.1:c.166del XP_011514056.1:p.Leu56SerfsTer16
NM_000492.4:c.409del MANE Select NP_000483.3:p.Leu137SerfsTer16