Canonical Allele Identifier: CA368993408
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614645A>T , CM000669.2:g.117614645A>T GRCh38
NC_000007.13:g.117254699A>T , CM000669.1:g.117254699A>T GRCh37
NC_000007.12:g.117041935A>T NCBI36
NG_016465.4:g.153862A>T , LRG_663:g.153862A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3400A>T ENSP00000497673.2:p.Thr1134Ser
ENST00000647978.2:c.*3114A>T ENSP00000497658.1:n.*3114A>T
ENST00000649781.2:c.3217A>T ENSP00000497203.1:p.Thr1073Ser
ENST00000685018.2:c.3400A>T ENSP00000510194.2:p.Thr1134Ser
ENST00000687278.2:c.3400A>T ENSP00000509593.2:p.Thr1134Ser
ENST00000699585.1:c.3400A>T ENSP00000514456.1:p.Thr1134Ser
ENST00000699598.1:c.3400A>T ENSP00000514467.1:p.Thr1134Ser
ENST00000699599.1:c.3400A>T ENSP00000514468.1:p.Thr1134Ser
ENST00000699600.1:c.3400A>T ENSP00000514469.1:p.Thr1134Ser
ENST00000699601.1:c.*1775A>T ENSP00000514470.1:n.*1775A>T
ENST00000699602.1:c.3394A>T ENSP00000514471.1:p.Thr1132Ser
ENST00000699604.1:c.*3224A>T ENSP00000514472.1:n.*3224A>T
ENST00000699605.1:c.2974A>T ENSP00000514473.1:p.Thr992Ser
ENST00000685018.1:c.148A>T ENSP00000510194.1:p.Thr50Ser
ENST00000687278.1:c.991A>T ENSP00000509593.1:p.Thr331Ser
ENST00000003084.11:c.3400A>T MANE Select ENSP00000003084.6:p.Thr1134Ser
ENST00000647720.1:c.1050A>T
ENST00000648260.1:c.2182A>T ENSP00000497957.1:p.Thr728Ser
ENST00000649406.1:c.3217A>T ENSP00000497965.1:p.Thr1073Ser
ENST00000649781.1:c.3217A>T ENSP00000497203.1:p.Thr1073Ser
ENST00000003084.10:c.3400A>T ENSP00000003084.6:p.Thr1134Ser
ENST00000426809.5:c.3310A>T ENSP00000389119.1:p.Thr1104Ser
ENST00000468795.1:c.225A>T
NM_000492.3:c.3400A>T , LRG_663t1:c.3400A>T NP_000483.3:p.Thr1134Ser
XM_011515751.1:c.3490A>T XP_011514053.1:p.Thr1164Ser
XM_011515752.1:c.3490A>T XP_011514054.1:p.Thr1164Ser
XM_011515753.1:c.3157A>T XP_011514055.1:p.Thr1053Ser
XM_011515754.1:c.3157A>T XP_011514056.1:p.Thr1053Ser
NM_000492.4:c.3400A>T MANE Select NP_000483.3:p.Thr1134Ser