Canonical Allele Identifier: CA326570
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53311
ClinVar RCV Id: RCV000577471
dbSNP Id: rs397508247

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587802G>A , CM000669.2:g.117587802G>A GRCh38
NC_000007.13:g.117227856G>A , CM000669.1:g.117227856G>A GRCh37
NC_000007.12:g.117015092G>A NCBI36
NG_016465.4:g.127019G>A , LRG_663:g.127019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1648G>A ENSP00000497673.2:p.Gly550Arg
ENST00000647978.2:c.*1362G>A ENSP00000497658.1:n.*1362G>A
ENST00000649781.2:c.1465G>A ENSP00000497203.1:p.Gly489Arg
ENST00000685018.2:c.1648G>A ENSP00000510194.2:p.Gly550Arg
ENST00000687278.2:c.1648G>A ENSP00000509593.2:p.Gly550Arg
ENST00000699585.1:c.1648G>A ENSP00000514456.1:p.Gly550Arg
ENST00000699598.1:c.1648G>A ENSP00000514467.1:p.Gly550Arg
ENST00000699599.1:c.1648G>A ENSP00000514468.1:p.Gly550Arg
ENST00000699600.1:c.1648G>A ENSP00000514469.1:p.Gly550Arg
ENST00000699601.1:c.1648G>A ENSP00000514470.1:p.Gly550Arg
ENST00000699602.1:c.1648G>A ENSP00000514471.1:p.Gly550Arg
ENST00000699604.1:c.*1472G>A ENSP00000514472.1:n.*1472G>A
ENST00000699605.1:c.1222G>A ENSP00000514473.1:p.Gly408Arg
ENST00000003084.11:c.1648G>A MANE Select ENSP00000003084.6:p.Gly550Arg
ENST00000647978.1:c.*1362G>A ENSP00000497658.1:n.*1362G>A
ENST00000648260.1:c.1402-15024G>A ENSP00000497957.1:n.1402-15024G>A
ENST00000649406.1:c.1465G>A ENSP00000497965.1:p.Gly489Arg
ENST00000649781.1:c.1465G>A ENSP00000497203.1:p.Gly489Arg
ENST00000003084.10:c.1648G>A ENSP00000003084.6:p.Gly550Arg
ENST00000426809.5:c.1558G>A ENSP00000389119.1:p.Gly520Arg
NM_000492.3:c.1648G>A , LRG_663t1:c.1648G>A NP_000483.3:p.Gly550Arg
XM_011515751.1:c.1738G>A XP_011514053.1:p.Gly580Arg
XM_011515752.1:c.1738G>A XP_011514054.1:p.Gly580Arg
XM_011515753.1:c.1405G>A XP_011514055.1:p.Gly469Arg
XM_011515754.1:c.1405G>A XP_011514056.1:p.Gly469Arg
NM_000492.4:c.1648G>A MANE Select NP_000483.3:p.Gly550Arg