Canonical Allele Identifier: CA368993254
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614615G>T , CM000669.2:g.117614615G>T GRCh38
NC_000007.13:g.117254669G>T , CM000669.1:g.117254669G>T GRCh37
NC_000007.12:g.117041905G>T NCBI36
NG_016465.4:g.153832G>T , LRG_663:g.153832G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3370G>T ENSP00000497673.2:p.Glu1124Ter
ENST00000647978.2:c.*3084G>T ENSP00000497658.1:n.*3084G>T
ENST00000649781.2:c.3187G>T ENSP00000497203.1:p.Glu1063Ter
ENST00000685018.2:c.3370G>T ENSP00000510194.2:p.Glu1124Ter
ENST00000687278.2:c.3370G>T ENSP00000509593.2:p.Glu1124Ter
ENST00000699585.1:c.3370G>T ENSP00000514456.1:p.Glu1124Ter
ENST00000699598.1:c.3370G>T ENSP00000514467.1:p.Glu1124Ter
ENST00000699599.1:c.3370G>T ENSP00000514468.1:p.Glu1124Ter
ENST00000699600.1:c.3370G>T ENSP00000514469.1:p.Glu1124Ter
ENST00000699601.1:c.*1745G>T ENSP00000514470.1:n.*1745G>T
ENST00000699602.1:c.3368-4G>T ENSP00000514471.1:n.3368-4G>T
ENST00000699604.1:c.*3194G>T ENSP00000514472.1:n.*3194G>T
ENST00000699605.1:c.2944G>T ENSP00000514473.1:p.Glu982Ter
ENST00000685018.1:c.118G>T ENSP00000510194.1:p.Glu40Ter
ENST00000687278.1:c.961G>T ENSP00000509593.1:p.Glu321Ter
ENST00000003084.11:c.3370G>T MANE Select ENSP00000003084.6:p.Glu1124Ter
ENST00000647720.1:c.1020G>T
ENST00000648260.1:c.2152G>T ENSP00000497957.1:p.Glu718Ter
ENST00000649406.1:c.3187G>T ENSP00000497965.1:p.Glu1063Ter
ENST00000649781.1:c.3187G>T ENSP00000497203.1:p.Glu1063Ter
ENST00000003084.10:c.3370G>T ENSP00000003084.6:p.Glu1124Ter
ENST00000426809.5:c.3280G>T ENSP00000389119.1:p.Glu1094Ter
ENST00000468795.1:c.195G>T
NM_000492.3:c.3370G>T , LRG_663t1:c.3370G>T NP_000483.3:p.Glu1124Ter
XM_011515751.1:c.3460G>T XP_011514053.1:p.Glu1154Ter
XM_011515752.1:c.3460G>T XP_011514054.1:p.Glu1154Ter
XM_011515753.1:c.3127G>T XP_011514055.1:p.Glu1043Ter
XM_011515754.1:c.3127G>T XP_011514056.1:p.Glu1043Ter
NM_000492.4:c.3370G>T MANE Select NP_000483.3:p.Glu1124Ter