Canonical Allele Identifier: CA457448987

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592645-A-G
• MyVariant Identifiers: chr7:g.117232699A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592645A>G , CM000669.2:g.117592645A>G	GRCh38
NC_000007.13:g.117232699A>G , CM000669.1:g.117232699A>G	GRCh37
NC_000007.12:g.117019935A>G	NCBI36
NG_016465.4:g.131862A>G , LRG_663:g.131862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2478A>G	ENSP00000497673.2:p.Glu826=
ENST00000647978.2:c.*2192A>G	ENSP00000497658.1:n.*2192A>G
ENST00000649781.2:c.2295A>G	ENSP00000497203.1:p.Glu765=
ENST00000685018.2:c.2478A>G	ENSP00000510194.2:p.Glu826=
ENST00000687278.2:c.2478A>G	ENSP00000509593.2:p.Glu826=
ENST00000699585.1:c.2478A>G	ENSP00000514456.1:p.Glu826=
ENST00000699598.1:c.2478A>G	ENSP00000514467.1:p.Glu826=
ENST00000699599.1:c.2478A>G	ENSP00000514468.1:p.Glu826=
ENST00000699600.1:c.2478A>G	ENSP00000514469.1:p.Glu826=
ENST00000699601.1:c.*778A>G	ENSP00000514470.1:n.*778A>G
ENST00000699602.1:c.2478A>G	ENSP00000514471.1:p.Glu826=
ENST00000699604.1:c.*2302A>G	ENSP00000514472.1:n.*2302A>G
ENST00000699605.1:c.2052A>G	ENSP00000514473.1:p.Glu684=
ENST00000687278.1:c.69A>G	ENSP00000509593.1:p.Glu23=
ENST00000003084.11:c.2478A>G MANE Select	ENSP00000003084.6:p.Glu826=
ENST00000647720.1:c.128A>G
ENST00000647978.1:c.*2192A>G	ENSP00000497658.1:n.*2192A>G
ENST00000648260.1:c.1402-10181A>G	ENSP00000497957.1:n.1402-10181A>G
ENST00000649406.1:c.2295A>G	ENSP00000497965.1:p.Glu765=
ENST00000649781.1:c.2295A>G	ENSP00000497203.1:p.Glu765=
ENST00000003084.10:c.2478A>G	ENSP00000003084.6:p.Glu826=
ENST00000426809.5:c.2388A>G	ENSP00000389119.1:p.Glu796=
NM_000492.3:c.2478A>G , LRG_663t1:c.2478A>G	NP_000483.3:p.Glu826=
XM_011515751.1:c.2568A>G	XP_011514053.1:p.Glu856=
XM_011515752.1:c.2568A>G	XP_011514054.1:p.Glu856=
XM_011515753.1:c.2235A>G	XP_011514055.1:p.Glu745=
XM_011515754.1:c.2235A>G	XP_011514056.1:p.Glu745=
NM_000492.4:c.2478A>G MANE Select	NP_000483.3:p.Glu826=