Canonical Allele Identifier: CA457230270

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304765A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664711A>G , CM000669.2:g.117664711A>G	GRCh38
NC_000007.13:g.117304765A>G , CM000669.1:g.117304765A>G	GRCh37
NC_000007.12:g.117092001A>G	NCBI36
NG_016465.4:g.203928A>G , LRG_663:g.203928A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*196A>G	ENSP00000497673.2:n.*196A>G
ENST00000647978.2:c.*3701A>G	ENSP00000497658.1:n.*3701A>G
ENST00000649781.2:c.3804A>G	ENSP00000497203.1:p.Glu1268=
ENST00000685018.2:c.*200A>G	ENSP00000510194.2:n.*200A>G
ENST00000687278.2:c.*640A>G	ENSP00000509593.2:n.*640A>G
ENST00000699585.1:c.*196A>G	ENSP00000514456.1:n.*196A>G
ENST00000699598.1:c.3987A>G	ENSP00000514467.1:p.Glu1329=
ENST00000699599.1:c.*200A>G	ENSP00000514468.1:n.*200A>G
ENST00000699600.1:c.*648A>G	ENSP00000514469.1:n.*648A>G
ENST00000699601.1:c.*2362A>G	ENSP00000514470.1:n.*2362A>G
ENST00000699602.1:c.3981A>G	ENSP00000514471.1:p.Glu1327=
ENST00000699604.1:c.*3811A>G	ENSP00000514472.1:n.*3811A>G
ENST00000699605.1:c.3561A>G	ENSP00000514473.1:p.Glu1187=
ENST00000699606.1:n.2155A>G
ENST00000685018.1:c.851A>G	ENSP00000510194.1:n.851A>G
ENST00000687278.1:c.1774A>G	ENSP00000509593.1:n.1774A>G
ENST00000689011.1:c.569A>G
ENST00000003084.11:c.3987A>G MANE Select	ENSP00000003084.6:p.Glu1329=
ENST00000647720.1:c.1437A>G
ENST00000649781.1:c.3804A>G	ENSP00000497203.1:p.Glu1268=
ENST00000003084.10:c.3987A>G	ENSP00000003084.6:p.Glu1329=
ENST00000426809.5:c.3897A>G	ENSP00000389119.1:p.Glu1299=
ENST00000600166.1:c.113A>G
NM_000492.3:c.3987A>G , LRG_663t1:c.3987A>G	NP_000483.3:p.Glu1329=
XM_011515751.1:c.4077A>G	XP_011514053.1:p.Glu1359=
XM_011515752.1:c.4077A>G	XP_011514054.1:p.Glu1359=
XM_011515753.1:c.3744A>G	XP_011514055.1:p.Glu1248=
XM_011515754.1:c.3744A>G	XP_011514056.1:p.Glu1248=
NM_000492.4:c.3987A>G MANE Select	NP_000483.3:p.Glu1329=