Canonical Allele Identifier: CA327424
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53902
dbSNP Id: rs397508684

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117665466C>T , CM000669.2:g.117665466C>T GRCh38
NC_000007.13:g.117305520C>T , CM000669.1:g.117305520C>T GRCh37
NC_000007.12:g.117092756C>T NCBI36
NG_016465.4:g.204683C>T , LRG_663:g.204683C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*353C>T ENSP00000497673.2:n.*353C>T
ENST00000647978.2:c.*3858C>T ENSP00000497658.1:n.*3858C>T
ENST00000649781.2:c.3961C>T ENSP00000497203.1:p.Gln1321Ter
ENST00000685018.2:c.*357C>T ENSP00000510194.2:n.*357C>T
ENST00000687278.2:c.*797C>T ENSP00000509593.2:n.*797C>T
ENST00000699585.1:c.*353C>T ENSP00000514456.1:n.*353C>T
ENST00000699598.1:c.4144C>T ENSP00000514467.1:p.Gln1382Ter
ENST00000699599.1:c.*357C>T ENSP00000514468.1:n.*357C>T
ENST00000699600.1:c.*805C>T ENSP00000514469.1:n.*805C>T
ENST00000699601.1:c.*2519C>T ENSP00000514470.1:n.*2519C>T
ENST00000699602.1:c.4138C>T ENSP00000514471.1:p.Gln1380Ter
ENST00000699604.1:c.*3968C>T ENSP00000514472.1:n.*3968C>T
ENST00000699605.1:c.3718C>T ENSP00000514473.1:p.Gln1240Ter
ENST00000699606.1:n.2312C>T
ENST00000685018.1:c.1008C>T ENSP00000510194.1:n.1008C>T
ENST00000687278.1:c.1931C>T ENSP00000509593.1:n.1931C>T
ENST00000689011.1:c.726C>T
ENST00000003084.11:c.4144C>T MANE Select ENSP00000003084.6:p.Gln1382Ter
ENST00000647720.1:c.1594C>T
ENST00000649781.1:c.3961C>T ENSP00000497203.1:p.Gln1321Ter
ENST00000003084.10:c.4144C>T ENSP00000003084.6:p.Gln1382Ter
ENST00000426809.5:c.4054C>T ENSP00000389119.1:p.Gln1352Ter
ENST00000600166.1:c.270C>T
NM_000492.3:c.4144C>T , LRG_663t1:c.4144C>T NP_000483.3:p.Gln1382Ter
XM_011515751.1:c.4234C>T XP_011514053.1:p.Gln1412Ter
XM_011515752.1:c.4234C>T XP_011514054.1:p.Gln1412Ter
XM_011515753.1:c.3901C>T XP_011514055.1:p.Gln1301Ter
XM_011515754.1:c.3901C>T XP_011514056.1:p.Gln1301Ter
NM_000492.4:c.4144C>T MANE Select NP_000483.3:p.Gln1382Ter