Canonical Allele Identifier: CA368982240
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1737081
ClinVar RCV Id: RCV002359466

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664743T>A , CM000669.2:g.117664743T>A GRCh38
NC_000007.13:g.117304797T>A , CM000669.1:g.117304797T>A GRCh37
NC_000007.12:g.117092033T>A NCBI36
NG_016465.4:g.203960T>A , LRG_663:g.203960T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*228T>A ENSP00000497673.2:n.*228T>A
ENST00000647978.2:c.*3733T>A ENSP00000497658.1:n.*3733T>A
ENST00000649781.2:c.3836T>A ENSP00000497203.1:p.Val1279Glu
ENST00000685018.2:c.*232T>A ENSP00000510194.2:n.*232T>A
ENST00000687278.2:c.*672T>A ENSP00000509593.2:n.*672T>A
ENST00000699585.1:c.*228T>A ENSP00000514456.1:n.*228T>A
ENST00000699598.1:c.4019T>A ENSP00000514467.1:p.Val1340Glu
ENST00000699599.1:c.*232T>A ENSP00000514468.1:n.*232T>A
ENST00000699600.1:c.*680T>A ENSP00000514469.1:n.*680T>A
ENST00000699601.1:c.*2394T>A ENSP00000514470.1:n.*2394T>A
ENST00000699602.1:c.4013T>A ENSP00000514471.1:p.Val1338Glu
ENST00000699604.1:c.*3843T>A ENSP00000514472.1:n.*3843T>A
ENST00000699605.1:c.3593T>A ENSP00000514473.1:p.Val1198Glu
ENST00000699606.1:n.2187T>A
ENST00000685018.1:c.883T>A ENSP00000510194.1:n.883T>A
ENST00000687278.1:c.1806T>A ENSP00000509593.1:n.1806T>A
ENST00000689011.1:c.601T>A
ENST00000003084.11:c.4019T>A MANE Select ENSP00000003084.6:p.Val1340Glu
ENST00000647720.1:c.1469T>A
ENST00000649781.1:c.3836T>A ENSP00000497203.1:p.Val1279Glu
ENST00000003084.10:c.4019T>A ENSP00000003084.6:p.Val1340Glu
ENST00000426809.5:c.3929T>A ENSP00000389119.1:p.Val1310Glu
ENST00000600166.1:c.145T>A
NM_000492.3:c.4019T>A , LRG_663t1:c.4019T>A NP_000483.3:p.Val1340Glu
XM_011515751.1:c.4109T>A XP_011514053.1:p.Val1370Glu
XM_011515752.1:c.4109T>A XP_011514054.1:p.Val1370Glu
XM_011515753.1:c.3776T>A XP_011514055.1:p.Val1259Glu
XM_011515754.1:c.3776T>A XP_011514056.1:p.Val1259Glu
NM_000492.4:c.4019T>A MANE Select NP_000483.3:p.Val1340Glu