Canonical Allele Identifier: CA326734
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53429
ClinVar RCV Id: RCV000046525
dbSNP Id: rs397508333

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592203G>A , CM000669.2:g.117592203G>A GRCh38
NC_000007.13:g.117232257G>A , CM000669.1:g.117232257G>A GRCh37
NC_000007.12:g.117019493G>A NCBI36
NG_016465.4:g.131420G>A , LRG_663:g.131420G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2036G>A ENSP00000497673.2:p.Trp679Ter
ENST00000647978.2:c.*1750G>A ENSP00000497658.1:n.*1750G>A
ENST00000649781.2:c.1853G>A ENSP00000497203.1:p.Trp618Ter
ENST00000685018.2:c.2036G>A ENSP00000510194.2:p.Trp679Ter
ENST00000687278.2:c.2036G>A ENSP00000509593.2:p.Trp679Ter
ENST00000699585.1:c.2036G>A ENSP00000514456.1:p.Trp679Ter
ENST00000699598.1:c.2036G>A ENSP00000514467.1:p.Trp679Ter
ENST00000699599.1:c.2036G>A ENSP00000514468.1:p.Trp679Ter
ENST00000699600.1:c.2036G>A ENSP00000514469.1:p.Trp679Ter
ENST00000699601.1:c.*336G>A ENSP00000514470.1:n.*336G>A
ENST00000699602.1:c.2036G>A ENSP00000514471.1:p.Trp679Ter
ENST00000699604.1:c.*1860G>A ENSP00000514472.1:n.*1860G>A
ENST00000699605.1:c.1610G>A ENSP00000514473.1:p.Trp537Ter
ENST00000003084.11:c.2036G>A MANE Select ENSP00000003084.6:p.Trp679Ter
ENST00000647978.1:c.*1750G>A ENSP00000497658.1:n.*1750G>A
ENST00000648260.1:c.1402-10623G>A ENSP00000497957.1:n.1402-10623G>A
ENST00000649406.1:c.1853G>A ENSP00000497965.1:p.Trp618Ter
ENST00000649781.1:c.1853G>A ENSP00000497203.1:p.Trp618Ter
ENST00000003084.10:c.2036G>A ENSP00000003084.6:p.Trp679Ter
ENST00000426809.5:c.1946G>A ENSP00000389119.1:p.Trp649Ter
NM_000492.3:c.2036G>A , LRG_663t1:c.2036G>A NP_000483.3:p.Trp679Ter
XM_011515751.1:c.2126G>A XP_011514053.1:p.Trp709Ter
XM_011515752.1:c.2126G>A XP_011514054.1:p.Trp709Ter
XM_011515753.1:c.1793G>A XP_011514055.1:p.Trp598Ter
XM_011515754.1:c.1793G>A XP_011514056.1:p.Trp598Ter
NM_000492.4:c.2036G>A MANE Select NP_000483.3:p.Trp679Ter