Canonical Allele Identifier: CA327404
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53891
dbSNP Id: rs397508675

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664835G>T , CM000669.2:g.117664835G>T GRCh38
NC_000007.13:g.117304889G>T , CM000669.1:g.117304889G>T GRCh37
NC_000007.12:g.117092125G>T NCBI36
NG_016465.4:g.204052G>T , LRG_663:g.204052G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*320G>T ENSP00000497673.2:n.*320G>T
ENST00000647978.2:c.*3825G>T ENSP00000497658.1:n.*3825G>T
ENST00000649781.2:c.3928G>T ENSP00000497203.1:p.Glu1310Ter
ENST00000685018.2:c.*324G>T ENSP00000510194.2:n.*324G>T
ENST00000687278.2:c.*764G>T ENSP00000509593.2:n.*764G>T
ENST00000699585.1:c.*320G>T ENSP00000514456.1:n.*320G>T
ENST00000699598.1:c.4111G>T ENSP00000514467.1:p.Glu1371Ter
ENST00000699599.1:c.*324G>T ENSP00000514468.1:n.*324G>T
ENST00000699600.1:c.*772G>T ENSP00000514469.1:n.*772G>T
ENST00000699601.1:c.*2486G>T ENSP00000514470.1:n.*2486G>T
ENST00000699602.1:c.4105G>T ENSP00000514471.1:p.Glu1369Ter
ENST00000699604.1:c.*3935G>T ENSP00000514472.1:n.*3935G>T
ENST00000699605.1:c.3685G>T ENSP00000514473.1:p.Glu1229Ter
ENST00000699606.1:n.2279G>T
ENST00000685018.1:c.975G>T ENSP00000510194.1:n.975G>T
ENST00000687278.1:c.1898G>T ENSP00000509593.1:n.1898G>T
ENST00000689011.1:c.693G>T
ENST00000003084.11:c.4111G>T MANE Select ENSP00000003084.6:p.Glu1371Ter
ENST00000647720.1:c.1561G>T
ENST00000649781.1:c.3928G>T ENSP00000497203.1:p.Glu1310Ter
ENST00000003084.10:c.4111G>T ENSP00000003084.6:p.Glu1371Ter
ENST00000426809.5:c.4021G>T ENSP00000389119.1:p.Glu1341Ter
ENST00000600166.1:c.237G>T
NM_000492.3:c.4111G>T , LRG_663t1:c.4111G>T NP_000483.3:p.Glu1371Ter
XM_011515751.1:c.4201G>T XP_011514053.1:p.Glu1401Ter
XM_011515752.1:c.4201G>T XP_011514054.1:p.Glu1401Ter
XM_011515753.1:c.3868G>T XP_011514055.1:p.Glu1290Ter
XM_011515754.1:c.3868G>T XP_011514056.1:p.Glu1290Ter
NM_000492.4:c.4111G>T MANE Select NP_000483.3:p.Glu1371Ter