Canonical Allele Identifier: CA368989072
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1797931
ClinVar RCV Id: RCV002440181

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117606707C>A , CM000669.2:g.117606707C>A GRCh38
NC_000007.13:g.117246761C>A , CM000669.1:g.117246761C>A GRCh37
NC_000007.12:g.117033997C>A NCBI36
NG_016465.4:g.145924C>A , LRG_663:g.145924C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2942C>A ENSP00000497673.2:p.Ala981Glu
ENST00000647978.2:c.*2656C>A ENSP00000497658.1:n.*2656C>A
ENST00000649781.2:c.2759C>A ENSP00000497203.1:p.Ala920Glu
ENST00000685018.2:c.2942C>A ENSP00000510194.2:p.Ala981Glu
ENST00000687278.2:c.2942C>A ENSP00000509593.2:p.Ala981Glu
ENST00000699585.1:c.2942C>A ENSP00000514456.1:p.Ala981Glu
ENST00000699598.1:c.2942C>A ENSP00000514467.1:p.Ala981Glu
ENST00000699599.1:c.2942C>A ENSP00000514468.1:p.Ala981Glu
ENST00000699600.1:c.2942C>A ENSP00000514469.1:p.Ala981Glu
ENST00000699601.1:c.*1242C>A ENSP00000514470.1:n.*1242C>A
ENST00000699602.1:c.2942C>A ENSP00000514471.1:p.Ala981Glu
ENST00000699604.1:c.*2766C>A ENSP00000514472.1:n.*2766C>A
ENST00000699605.1:c.2516C>A ENSP00000514473.1:p.Ala839Glu
ENST00000687278.1:c.533C>A ENSP00000509593.1:p.Ala178Glu
ENST00000003084.11:c.2942C>A MANE Select ENSP00000003084.6:p.Ala981Glu
ENST00000647720.1:c.592C>A
ENST00000648260.1:c.1724C>A ENSP00000497957.1:p.Ala575Glu
ENST00000649406.1:c.2759C>A ENSP00000497965.1:p.Ala920Glu
ENST00000649781.1:c.2759C>A ENSP00000497203.1:p.Ala920Glu
ENST00000003084.10:c.2942C>A ENSP00000003084.6:p.Ala981Glu
ENST00000426809.5:c.2852C>A ENSP00000389119.1:p.Ala951Glu
NM_000492.3:c.2942C>A , LRG_663t1:c.2942C>A NP_000483.3:p.Ala981Glu
XM_011515751.1:c.3032C>A XP_011514053.1:p.Ala1011Glu
XM_011515752.1:c.3032C>A XP_011514054.1:p.Ala1011Glu
XM_011515753.1:c.2699C>A XP_011514055.1:p.Ala900Glu
XM_011515754.1:c.2699C>A XP_011514056.1:p.Ala900Glu
NM_000492.4:c.2942C>A MANE Select NP_000483.3:p.Ala981Glu