Canonical Allele Identifier: CA457228392

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2751183
• ClinVar RCV Id: RCV003506998
• MyVariant Identifiers: chr7:g.117282614A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642560A>G , CM000669.2:g.117642560A>G	GRCh38
NC_000007.13:g.117282614A>G , CM000669.1:g.117282614A>G	GRCh37
NC_000007.12:g.117069850A>G	NCBI36
NG_016465.4:g.181777A>G , LRG_663:g.181777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*49A>G	ENSP00000497673.2:n.*49A>G
ENST00000647978.2:c.*3554A>G	ENSP00000497658.1:n.*3554A>G
ENST00000649781.2:c.3657A>G	ENSP00000497203.1:p.Gln1219=
ENST00000685018.2:c.3840A>G	ENSP00000510194.2:p.Gln1280=
ENST00000687278.2:c.*493A>G	ENSP00000509593.2:n.*493A>G
ENST00000699585.1:c.*49A>G	ENSP00000514456.1:n.*49A>G
ENST00000699598.1:c.3840A>G	ENSP00000514467.1:p.Gln1280=
ENST00000699599.1:c.3840A>G	ENSP00000514468.1:p.Gln1280=
ENST00000699600.1:c.*501A>G	ENSP00000514469.1:n.*501A>G
ENST00000699601.1:c.*2215A>G	ENSP00000514470.1:n.*2215A>G
ENST00000699602.1:c.3834A>G	ENSP00000514471.1:p.Gln1278=
ENST00000699604.1:c.*3664A>G	ENSP00000514472.1:n.*3664A>G
ENST00000699605.1:c.3414A>G	ENSP00000514473.1:p.Gln1138=
ENST00000685018.1:c.588A>G	ENSP00000510194.1:p.Gln196=
ENST00000687278.1:c.1627A>G	ENSP00000509593.1:n.1627A>G
ENST00000689011.1:c.422A>G
ENST00000003084.11:c.3840A>G MANE Select	ENSP00000003084.6:p.Gln1280=
ENST00000647720.1:c.1290A>G
ENST00000649781.1:c.3657A>G	ENSP00000497203.1:p.Gln1219=
ENST00000003084.10:c.3840A>G	ENSP00000003084.6:p.Gln1280=
ENST00000426809.5:c.3750A>G	ENSP00000389119.1:p.Gln1250=
NM_000492.3:c.3840A>G , LRG_663t1:c.3840A>G	NP_000483.3:p.Gln1280=
XM_011515751.1:c.3930A>G	XP_011514053.1:p.Gln1310=
XM_011515752.1:c.3930A>G	XP_011514054.1:p.Gln1310=
XM_011515753.1:c.3597A>G	XP_011514055.1:p.Gln1199=
XM_011515754.1:c.3597A>G	XP_011514056.1:p.Gln1199=
NM_000492.4:c.3840A>G MANE Select	NP_000483.3:p.Gln1280=