Canonical Allele Identifier: CA368974398
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642438G>A , CM000669.2:g.117642438G>A GRCh38
NC_000007.13:g.117282492G>A , CM000669.1:g.117282492G>A GRCh37
NC_000007.12:g.117069728G>A NCBI36
NG_016465.4:g.181655G>A , LRG_663:g.181655G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3518G>A ENSP00000497673.2:p.Gly1173Asp
ENST00000647978.2:c.*3432G>A ENSP00000497658.1:n.*3432G>A
ENST00000649781.2:c.3535G>A ENSP00000497203.1:p.Val1179Met
ENST00000685018.2:c.3718G>A ENSP00000510194.2:p.Val1240Met
ENST00000687278.2:c.*371G>A ENSP00000509593.2:n.*371G>A
ENST00000699585.1:c.3518G>A ENSP00000514456.1:p.Gly1173Asp
ENST00000699598.1:c.3718G>A ENSP00000514467.1:p.Val1240Met
ENST00000699599.1:c.3718G>A ENSP00000514468.1:p.Val1240Met
ENST00000699600.1:c.*379G>A ENSP00000514469.1:n.*379G>A
ENST00000699601.1:c.*2093G>A ENSP00000514470.1:n.*2093G>A
ENST00000699602.1:c.3712G>A ENSP00000514471.1:p.Val1238Met
ENST00000699604.1:c.*3542G>A ENSP00000514472.1:n.*3542G>A
ENST00000699605.1:c.3292G>A ENSP00000514473.1:p.Val1098Met
ENST00000685018.1:c.466G>A ENSP00000510194.1:p.Val156Met
ENST00000687278.1:c.1505G>A ENSP00000509593.1:n.1505G>A
ENST00000689011.1:c.300G>A
ENST00000003084.11:c.3718G>A MANE Select ENSP00000003084.6:p.Val1240Met
ENST00000647720.1:c.1168G>A
ENST00000649781.1:c.3535G>A ENSP00000497203.1:p.Val1179Met
ENST00000003084.10:c.3718G>A ENSP00000003084.6:p.Val1240Met
ENST00000426809.5:c.3628G>A ENSP00000389119.1:p.Val1210Met
NM_000492.3:c.3718G>A , LRG_663t1:c.3718G>A NP_000483.3:p.Val1240Met
XM_011515751.1:c.3808G>A XP_011514053.1:p.Val1270Met
XM_011515752.1:c.3808G>A XP_011514054.1:p.Val1270Met
XM_011515753.1:c.3475G>A XP_011514055.1:p.Val1159Met
XM_011515754.1:c.3475G>A XP_011514056.1:p.Val1159Met
NM_000492.4:c.3718G>A MANE Select NP_000483.3:p.Val1240Met