Canonical Allele Identifier: CA368989243

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117246805C>G (hg19) ; chr7:g.117606751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606751C>G , CM000669.2:g.117606751C>G	GRCh38
NC_000007.13:g.117246805C>G , CM000669.1:g.117246805C>G	GRCh37
NC_000007.12:g.117034041C>G	NCBI36
NG_016465.4:g.145968C>G , LRG_663:g.145968C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2986C>G	ENSP00000497673.2:p.Gln996Glu
ENST00000647978.2:c.*2700C>G	ENSP00000497658.1:n.*2700C>G
ENST00000649781.2:c.2803C>G	ENSP00000497203.1:p.Gln935Glu
ENST00000685018.2:c.2986C>G	ENSP00000510194.2:p.Gln996Glu
ENST00000687278.2:c.2986C>G	ENSP00000509593.2:p.Gln996Glu
ENST00000699585.1:c.2986C>G	ENSP00000514456.1:p.Gln996Glu
ENST00000699598.1:c.2986C>G	ENSP00000514467.1:p.Gln996Glu
ENST00000699599.1:c.2986C>G	ENSP00000514468.1:p.Gln996Glu
ENST00000699600.1:c.2986C>G	ENSP00000514469.1:p.Gln996Glu
ENST00000699601.1:c.*1286C>G	ENSP00000514470.1:n.*1286C>G
ENST00000699602.1:c.2986C>G	ENSP00000514471.1:p.Gln996Glu
ENST00000699604.1:c.*2810C>G	ENSP00000514472.1:n.*2810C>G
ENST00000699605.1:c.2560C>G	ENSP00000514473.1:p.Gln854Glu
ENST00000687278.1:c.577C>G	ENSP00000509593.1:p.Gln193Glu
ENST00000003084.11:c.2986C>G MANE Select	ENSP00000003084.6:p.Gln996Glu
ENST00000647720.1:c.636C>G
ENST00000648260.1:c.1768C>G	ENSP00000497957.1:p.Gln590Glu
ENST00000649406.1:c.2803C>G	ENSP00000497965.1:p.Gln935Glu
ENST00000649781.1:c.2803C>G	ENSP00000497203.1:p.Gln935Glu
ENST00000003084.10:c.2986C>G	ENSP00000003084.6:p.Gln996Glu
ENST00000426809.5:c.2896C>G	ENSP00000389119.1:p.Gln966Glu
NM_000492.3:c.2986C>G , LRG_663t1:c.2986C>G	NP_000483.3:p.Gln996Glu
XM_011515751.1:c.3076C>G	XP_011514053.1:p.Gln1026Glu
XM_011515752.1:c.3076C>G	XP_011514054.1:p.Gln1026Glu
XM_011515753.1:c.2743C>G	XP_011514055.1:p.Gln915Glu
XM_011515754.1:c.2743C>G	XP_011514056.1:p.Gln915Glu
NM_000492.4:c.2986C>G MANE Select	NP_000483.3:p.Gln996Glu