Canonical Allele Identifier: CA368992389
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611728T>C , CM000669.2:g.117611728T>C GRCh38
NC_000007.13:g.117251782T>C , CM000669.1:g.117251782T>C GRCh37
NC_000007.12:g.117039018T>C NCBI36
NG_016465.4:g.150945T>C , LRG_663:g.150945T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3287T>C ENSP00000497673.2:p.Leu1096Pro
ENST00000647978.2:c.*3001T>C ENSP00000497658.1:n.*3001T>C
ENST00000649781.2:c.3104T>C ENSP00000497203.1:p.Leu1035Pro
ENST00000685018.2:c.3287T>C ENSP00000510194.2:p.Leu1096Pro
ENST00000687278.2:c.3287T>C ENSP00000509593.2:p.Leu1096Pro
ENST00000699585.1:c.3287T>C ENSP00000514456.1:p.Leu1096Pro
ENST00000699598.1:c.3287T>C ENSP00000514467.1:p.Leu1096Pro
ENST00000699599.1:c.3287T>C ENSP00000514468.1:p.Leu1096Pro
ENST00000699600.1:c.3287T>C ENSP00000514469.1:p.Leu1096Pro
ENST00000699601.1:c.*1587T>C ENSP00000514470.1:n.*1587T>C
ENST00000699602.1:c.3287T>C ENSP00000514471.1:p.Leu1096Pro
ENST00000699604.1:c.*3111T>C ENSP00000514472.1:n.*3111T>C
ENST00000699605.1:c.2861T>C ENSP00000514473.1:p.Leu954Pro
ENST00000685018.1:c.35T>C ENSP00000510194.1:p.Leu12Pro
ENST00000687278.1:c.878T>C ENSP00000509593.1:p.Leu293Pro
ENST00000003084.11:c.3287T>C MANE Select ENSP00000003084.6:p.Leu1096Pro
ENST00000647720.1:c.937T>C
ENST00000648260.1:c.2069T>C ENSP00000497957.1:p.Leu690Pro
ENST00000649406.1:c.3104T>C ENSP00000497965.1:p.Leu1035Pro
ENST00000649781.1:c.3104T>C ENSP00000497203.1:p.Leu1035Pro
ENST00000003084.10:c.3287T>C ENSP00000003084.6:p.Leu1096Pro
ENST00000426809.5:c.3197T>C ENSP00000389119.1:p.Leu1066Pro
ENST00000468795.1:c.112T>C
NM_000492.3:c.3287T>C , LRG_663t1:c.3287T>C NP_000483.3:p.Leu1096Pro
XM_011515751.1:c.3377T>C XP_011514053.1:p.Leu1126Pro
XM_011515752.1:c.3377T>C XP_011514054.1:p.Leu1126Pro
XM_011515753.1:c.3044T>C XP_011514055.1:p.Leu1015Pro
XM_011515754.1:c.3044T>C XP_011514056.1:p.Leu1015Pro
NM_000492.4:c.3287T>C MANE Select NP_000483.3:p.Leu1096Pro