Canonical Allele Identifier: CA457231200
Gene: CFTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.117267641A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627587A>C , CM000669.2:g.117627587A>C GRCh38
NC_000007.13:g.117267641A>C , CM000669.1:g.117267641A>C GRCh37
NC_000007.12:g.117054877A>C NCBI36
NG_016465.4:g.166804A>C , LRG_663:g.166804A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+17A>C ENSP00000497673.2:n.3517+17A>C
ENST00000647978.2:c.*3248A>C ENSP00000497658.1:n.*3248A>C
ENST00000649781.2:c.3351A>C ENSP00000497203.1:p.Ser1117=
ENST00000685018.2:c.3534A>C ENSP00000510194.2:p.Ser1178=
ENST00000687278.2:c.*187A>C ENSP00000509593.2:n.*187A>C
ENST00000699585.1:c.3517+17A>C ENSP00000514456.1:n.3517+17A>C
ENST00000699598.1:c.3534A>C ENSP00000514467.1:p.Ser1178=
ENST00000699599.1:c.3534A>C ENSP00000514468.1:p.Ser1178=
ENST00000699600.1:c.*195A>C ENSP00000514469.1:n.*195A>C
ENST00000699601.1:c.*1909A>C ENSP00000514470.1:n.*1909A>C
ENST00000699602.1:c.3528A>C ENSP00000514471.1:p.Ser1176=
ENST00000699604.1:c.*3358A>C ENSP00000514472.1:n.*3358A>C
ENST00000699605.1:c.3108A>C ENSP00000514473.1:p.Ser1036=
ENST00000685018.1:c.282A>C ENSP00000510194.1:p.Ser94=
ENST00000687278.1:c.1321A>C ENSP00000509593.1:n.1321A>C
ENST00000689011.1:c.116A>C
ENST00000003084.11:c.3534A>C MANE Select ENSP00000003084.6:p.Ser1178=
ENST00000647720.1:c.1167+17A>C
ENST00000648260.1:c.2316A>C ENSP00000497957.1:p.Ser772=
ENST00000649406.1:c.3351A>C ENSP00000497965.1:p.Ser1117=
ENST00000649781.1:c.3351A>C ENSP00000497203.1:p.Ser1117=
ENST00000003084.10:c.3534A>C ENSP00000003084.6:p.Ser1178=
ENST00000426809.5:c.3444A>C ENSP00000389119.1:p.Ser1148=
ENST00000468795.1:c.359A>C
NM_000492.3:c.3534A>C , LRG_663t1:c.3534A>C NP_000483.3:p.Ser1178=
XM_011515751.1:c.3624A>C XP_011514053.1:p.Ser1208=
XM_011515752.1:c.3624A>C XP_011514054.1:p.Ser1208=
XM_011515753.1:c.3291A>C XP_011514055.1:p.Ser1097=
XM_011515754.1:c.3291A>C XP_011514056.1:p.Ser1097=
NM_000492.4:c.3534A>C MANE Select NP_000483.3:p.Ser1178=