Canonical Allele Identifier: CA368997268
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627685C>G , CM000669.2:g.117627685C>G GRCh38
NC_000007.13:g.117267739C>G , CM000669.1:g.117267739C>G GRCh37
NC_000007.12:g.117054975C>G NCBI36
NG_016465.4:g.166902C>G , LRG_663:g.166902C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+115C>G ENSP00000497673.2:n.3517+115C>G
ENST00000647978.2:c.*3346C>G ENSP00000497658.1:n.*3346C>G
ENST00000649781.2:c.3449C>G ENSP00000497203.1:p.Thr1150Ser
ENST00000685018.2:c.3632C>G ENSP00000510194.2:p.Thr1211Ser
ENST00000687278.2:c.*285C>G ENSP00000509593.2:n.*285C>G
ENST00000699585.1:c.3517+115C>G ENSP00000514456.1:n.3517+115C>G
ENST00000699598.1:c.3632C>G ENSP00000514467.1:p.Thr1211Ser
ENST00000699599.1:c.3632C>G ENSP00000514468.1:p.Thr1211Ser
ENST00000699600.1:c.*293C>G ENSP00000514469.1:n.*293C>G
ENST00000699601.1:c.*2007C>G ENSP00000514470.1:n.*2007C>G
ENST00000699602.1:c.3626C>G ENSP00000514471.1:p.Thr1209Ser
ENST00000699604.1:c.*3456C>G ENSP00000514472.1:n.*3456C>G
ENST00000699605.1:c.3206C>G ENSP00000514473.1:p.Thr1069Ser
ENST00000685018.1:c.380C>G ENSP00000510194.1:p.Thr127Ser
ENST00000687278.1:c.1419C>G ENSP00000509593.1:n.1419C>G
ENST00000689011.1:c.214C>G
ENST00000003084.11:c.3632C>G MANE Select ENSP00000003084.6:p.Thr1211Ser
ENST00000647720.1:c.1167+115C>G
ENST00000648260.1:c.2414C>G ENSP00000497957.1:p.Thr805Ser
ENST00000649406.1:c.3449C>G ENSP00000497965.1:p.Thr1150Ser
ENST00000649781.1:c.3449C>G ENSP00000497203.1:p.Thr1150Ser
ENST00000003084.10:c.3632C>G ENSP00000003084.6:p.Thr1211Ser
ENST00000426809.5:c.3542C>G ENSP00000389119.1:p.Thr1181Ser
ENST00000468795.1:c.457C>G
NM_000492.3:c.3632C>G , LRG_663t1:c.3632C>G NP_000483.3:p.Thr1211Ser
XM_011515751.1:c.3722C>G XP_011514053.1:p.Thr1241Ser
XM_011515752.1:c.3722C>G XP_011514054.1:p.Thr1241Ser
XM_011515753.1:c.3389C>G XP_011514055.1:p.Thr1130Ser
XM_011515754.1:c.3389C>G XP_011514056.1:p.Thr1130Ser
NM_000492.4:c.3632C>G MANE Select NP_000483.3:p.Thr1211Ser