Canonical Allele Identifier: CA326751
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53442
ClinVar RCV Id: RCV000576466
dbSNP Id: rs397508343

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592310C>T , CM000669.2:g.117592310C>T GRCh38
NC_000007.13:g.117232364C>T , CM000669.1:g.117232364C>T GRCh37
NC_000007.12:g.117019600C>T NCBI36
NG_016465.4:g.131527C>T , LRG_663:g.131527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.2143C>T MANE Select ENSP00000003084.6:p.Gln715Ter
ENST00000647978.1:c.*1857C>T ENSP00000497658.1:p.=
ENST00000648260.1:c.1402-10516C>T ENSP00000497957.1:p.=
ENST00000649406.1:c.1960C>T ENSP00000497965.1:p.Gln654Ter
ENST00000649781.1:n.1960C>T ENSP00000497203.1:p.Gln654Ter
ENST00000003084.10:c.2143C>T ENSP00000003084.6:p.Gln715Ter
ENST00000426809.5:n.2053C>T ENSP00000389119.1:p.Gln685Ter
NM_000492.3:c.2143C>T , LRG_663t1:c.2143C>T NP_000483.3:p.Gln715Ter
XM_011515751.1:c.2233C>T XP_011514053.1:p.Gln745Ter
XM_011515752.1:c.2233C>T XP_011514054.1:p.Gln745Ter
XM_011515753.1:c.1900C>T XP_011514055.1:p.Gln634Ter
XM_011515754.1:c.1900C>T XP_011514056.1:p.Gln634Ter
NM_000492.4:c.2143C>T MANE Select NP_000483.3:p.Gln715Ter