Canonical Allele Identifier: CA457228515
Gene: CFTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.117282641A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642587A>T , CM000669.2:g.117642587A>T GRCh38
NC_000007.13:g.117282641A>T , CM000669.1:g.117282641A>T GRCh37
NC_000007.12:g.117069877A>T NCBI36
NG_016465.4:g.181804A>T , LRG_663:g.181804A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*76A>T ENSP00000497673.2:n.*76A>T
ENST00000647978.2:c.*3581A>T ENSP00000497658.1:n.*3581A>T
ENST00000649781.2:c.3684A>T ENSP00000497203.1:p.Ile1228=
ENST00000685018.2:c.3867A>T ENSP00000510194.2:p.Ile1289=
ENST00000687278.2:c.*520A>T ENSP00000509593.2:n.*520A>T
ENST00000699585.1:c.*76A>T ENSP00000514456.1:n.*76A>T
ENST00000699598.1:c.3867A>T ENSP00000514467.1:p.Ile1289=
ENST00000699599.1:c.3867A>T ENSP00000514468.1:p.Ile1289=
ENST00000699600.1:c.*528A>T ENSP00000514469.1:n.*528A>T
ENST00000699601.1:c.*2242A>T ENSP00000514470.1:n.*2242A>T
ENST00000699602.1:c.3861A>T ENSP00000514471.1:p.Ile1287=
ENST00000699604.1:c.*3691A>T ENSP00000514472.1:n.*3691A>T
ENST00000699605.1:c.3441A>T ENSP00000514473.1:p.Ile1147=
ENST00000685018.1:c.615A>T ENSP00000510194.1:p.Ile205=
ENST00000687278.1:c.1654A>T ENSP00000509593.1:n.1654A>T
ENST00000689011.1:c.449A>T
ENST00000003084.11:c.3867A>T MANE Select ENSP00000003084.6:p.Ile1289=
ENST00000647720.1:c.1317A>T
ENST00000649781.1:c.3684A>T ENSP00000497203.1:p.Ile1228=
ENST00000003084.10:c.3867A>T ENSP00000003084.6:p.Ile1289=
ENST00000426809.5:c.3777A>T ENSP00000389119.1:p.Ile1259=
NM_000492.3:c.3867A>T , LRG_663t1:c.3867A>T NP_000483.3:p.Ile1289=
XM_011515751.1:c.3957A>T XP_011514053.1:p.Ile1319=
XM_011515752.1:c.3957A>T XP_011514054.1:p.Ile1319=
XM_011515753.1:c.3624A>T XP_011514055.1:p.Ile1208=
XM_011515754.1:c.3624A>T XP_011514056.1:p.Ile1208=
NM_000492.4:c.3867A>T MANE Select NP_000483.3:p.Ile1289=