Canonical Allele Identifier: CA457228109

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282548G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642494G>A , CM000669.2:g.117642494G>A	GRCh38
NC_000007.13:g.117282548G>A , CM000669.1:g.117282548G>A	GRCh37
NC_000007.12:g.117069784G>A	NCBI36
NG_016465.4:g.181711G>A , LRG_663:g.181711G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3574G>A	ENSP00000497673.2:p.Glu1192Lys
ENST00000647978.2:c.*3488G>A	ENSP00000497658.1:n.*3488G>A
ENST00000649781.2:c.3591G>A	ENSP00000497203.1:p.Leu1197=
ENST00000685018.2:c.3774G>A	ENSP00000510194.2:p.Leu1258=
ENST00000687278.2:c.*427G>A	ENSP00000509593.2:n.*427G>A
ENST00000699585.1:c.3574G>A	ENSP00000514456.1:p.Glu1192Lys
ENST00000699598.1:c.3774G>A	ENSP00000514467.1:p.Leu1258=
ENST00000699599.1:c.3774G>A	ENSP00000514468.1:p.Leu1258=
ENST00000699600.1:c.*435G>A	ENSP00000514469.1:n.*435G>A
ENST00000699601.1:c.*2149G>A	ENSP00000514470.1:n.*2149G>A
ENST00000699602.1:c.3768G>A	ENSP00000514471.1:p.Leu1256=
ENST00000699604.1:c.*3598G>A	ENSP00000514472.1:n.*3598G>A
ENST00000699605.1:c.3348G>A	ENSP00000514473.1:p.Leu1116=
ENST00000685018.1:c.522G>A	ENSP00000510194.1:p.Leu174=
ENST00000687278.1:c.1561G>A	ENSP00000509593.1:n.1561G>A
ENST00000689011.1:c.356G>A
ENST00000003084.11:c.3774G>A MANE Select	ENSP00000003084.6:p.Leu1258=
ENST00000647720.1:c.1224G>A
ENST00000649781.1:c.3591G>A	ENSP00000497203.1:p.Leu1197=
ENST00000003084.10:c.3774G>A	ENSP00000003084.6:p.Leu1258=
ENST00000426809.5:c.3684G>A	ENSP00000389119.1:p.Leu1228=
NM_000492.3:c.3774G>A , LRG_663t1:c.3774G>A	NP_000483.3:p.Leu1258=
XM_011515751.1:c.3864G>A	XP_011514053.1:p.Leu1288=
XM_011515752.1:c.3864G>A	XP_011514054.1:p.Leu1288=
XM_011515753.1:c.3531G>A	XP_011514055.1:p.Leu1177=
XM_011515754.1:c.3531G>A	XP_011514056.1:p.Leu1177=
NM_000492.4:c.3774G>A MANE Select	NP_000483.3:p.Leu1258=