Canonical Allele Identifier: CA368997556
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627756A>C , CM000669.2:g.117627756A>C GRCh38
NC_000007.13:g.117267810A>C , CM000669.1:g.117267810A>C GRCh37
NC_000007.12:g.117055046A>C NCBI36
NG_016465.4:g.166973A>C , LRG_663:g.166973A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+186A>C ENSP00000497673.2:n.3517+186A>C
ENST00000647978.2:c.*3417A>C ENSP00000497658.1:n.*3417A>C
ENST00000649781.2:c.3520A>C ENSP00000497203.1:p.Ser1174Arg
ENST00000685018.2:c.3703A>C ENSP00000510194.2:p.Ser1235Arg
ENST00000687278.2:c.*356A>C ENSP00000509593.2:n.*356A>C
ENST00000699585.1:c.3517+186A>C ENSP00000514456.1:n.3517+186A>C
ENST00000699598.1:c.3703A>C ENSP00000514467.1:p.Ser1235Arg
ENST00000699599.1:c.3703A>C ENSP00000514468.1:p.Ser1235Arg
ENST00000699600.1:c.*364A>C ENSP00000514469.1:n.*364A>C
ENST00000699601.1:c.*2078A>C ENSP00000514470.1:n.*2078A>C
ENST00000699602.1:c.3697A>C ENSP00000514471.1:p.Ser1233Arg
ENST00000699604.1:c.*3527A>C ENSP00000514472.1:n.*3527A>C
ENST00000699605.1:c.3277A>C ENSP00000514473.1:p.Ser1093Arg
ENST00000685018.1:c.451A>C ENSP00000510194.1:p.Ser151Arg
ENST00000687278.1:c.1490A>C ENSP00000509593.1:n.1490A>C
ENST00000689011.1:c.285A>C
ENST00000003084.11:c.3703A>C MANE Select ENSP00000003084.6:p.Ser1235Arg
ENST00000647720.1:c.1167+186A>C
ENST00000648260.1:c.2485A>C ENSP00000497957.1:p.Ser829Arg
ENST00000649406.1:c.3520A>C ENSP00000497965.1:p.Ser1174Arg
ENST00000649781.1:c.3520A>C ENSP00000497203.1:p.Ser1174Arg
ENST00000003084.10:c.3703A>C ENSP00000003084.6:p.Ser1235Arg
ENST00000426809.5:c.3613A>C ENSP00000389119.1:p.Ser1205Arg
ENST00000468795.1:c.528A>C
NM_000492.3:c.3703A>C , LRG_663t1:c.3703A>C NP_000483.3:p.Ser1235Arg
XM_011515751.1:c.3793A>C XP_011514053.1:p.Ser1265Arg
XM_011515752.1:c.3793A>C XP_011514054.1:p.Ser1265Arg
XM_011515753.1:c.3460A>C XP_011514055.1:p.Ser1154Arg
XM_011515754.1:c.3460A>C XP_011514056.1:p.Ser1154Arg
NM_000492.4:c.3703A>C MANE Select NP_000483.3:p.Ser1235Arg