Canonical Allele Identifier: CA274372
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 189095
dbSNP Id: rs786204693

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117536654dup , CM000669.2:g.117536654dup GRCh38
NC_000007.13:g.117176708dup , CM000669.1:g.117176708dup GRCh37
NC_000007.12:g.116963944dup NCBI36
NG_016465.4:g.75871dup , LRG_663:g.75871dup

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.850dup MANE Select ENSP00000003084.6:p.Met284AsnfsTer3
ENST00000647978.1:c.*747dup ENSP00000497658.1:p.=
ENST00000648260.1:c.850dup ENSP00000497957.1:p.Met284AsnfsTer3
ENST00000649406.1:c.850dup ENSP00000497965.1:p.Met284AsnfsTer3
ENST00000649781.1:n.850dup ENSP00000497203.1:p.Met284AsnfsTer3
ENST00000673785.1:c.607dup ENSP00000501235.1:p.Met203AsnfsTer3
ENST00000003084.10:c.850dup ENSP00000003084.6:p.Met284AsnfsTer3
ENST00000426809.5:n.760dup ENSP00000389119.1:p.Met254AsnfsTer3
NM_000492.3:c.850dup , LRG_663t1:c.850dup NP_000483.3:p.Met284AsnfsTer3
XM_011515751.1:c.940dup XP_011514053.1:p.Met314AsnfsTer3
XM_011515752.1:c.940dup XP_011514054.1:p.Met314AsnfsTer3
XM_011515753.1:c.607dup XP_011514055.1:p.Met203AsnfsTer3
XM_011515754.1:c.607dup XP_011514056.1:p.Met203AsnfsTer3
NM_000492.4:c.850dup MANE Select NP_000483.3:p.Met284AsnfsTer3