Canonical Allele Identifier: CA457228238

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282578G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642524G>A , CM000669.2:g.117642524G>A	GRCh38
NC_000007.13:g.117282578G>A , CM000669.1:g.117282578G>A	GRCh37
NC_000007.12:g.117069814G>A	NCBI36
NG_016465.4:g.181741G>A , LRG_663:g.181741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*13G>A	ENSP00000497673.2:n.*13G>A
ENST00000647978.2:c.*3518G>A	ENSP00000497658.1:n.*3518G>A
ENST00000649781.2:c.3621G>A	ENSP00000497203.1:p.Gln1207=
ENST00000685018.2:c.3804G>A	ENSP00000510194.2:p.Gln1268=
ENST00000687278.2:c.*457G>A	ENSP00000509593.2:n.*457G>A
ENST00000699585.1:c.*13G>A	ENSP00000514456.1:n.*13G>A
ENST00000699598.1:c.3804G>A	ENSP00000514467.1:p.Gln1268=
ENST00000699599.1:c.3804G>A	ENSP00000514468.1:p.Gln1268=
ENST00000699600.1:c.*465G>A	ENSP00000514469.1:n.*465G>A
ENST00000699601.1:c.*2179G>A	ENSP00000514470.1:n.*2179G>A
ENST00000699602.1:c.3798G>A	ENSP00000514471.1:p.Gln1266=
ENST00000699604.1:c.*3628G>A	ENSP00000514472.1:n.*3628G>A
ENST00000699605.1:c.3378G>A	ENSP00000514473.1:p.Gln1126=
ENST00000685018.1:c.552G>A	ENSP00000510194.1:p.Gln184=
ENST00000687278.1:c.1591G>A	ENSP00000509593.1:n.1591G>A
ENST00000689011.1:c.386G>A
ENST00000003084.11:c.3804G>A MANE Select	ENSP00000003084.6:p.Gln1268=
ENST00000647720.1:c.1254G>A
ENST00000649781.1:c.3621G>A	ENSP00000497203.1:p.Gln1207=
ENST00000003084.10:c.3804G>A	ENSP00000003084.6:p.Gln1268=
ENST00000426809.5:c.3714G>A	ENSP00000389119.1:p.Gln1238=
NM_000492.3:c.3804G>A , LRG_663t1:c.3804G>A	NP_000483.3:p.Gln1268=
XM_011515751.1:c.3894G>A	XP_011514053.1:p.Gln1298=
XM_011515752.1:c.3894G>A	XP_011514054.1:p.Gln1298=
XM_011515753.1:c.3561G>A	XP_011514055.1:p.Gln1187=
XM_011515754.1:c.3561G>A	XP_011514056.1:p.Gln1187=
NM_000492.4:c.3804G>A MANE Select	NP_000483.3:p.Gln1268=