Canonical Allele Identifier: CA457228226

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453623
• ClinVar RCV Id: RCV003187758
• MyVariant Identifiers: chr7:g.117282575C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642521C>A , CM000669.2:g.117642521C>A	GRCh38
NC_000007.13:g.117282575C>A , CM000669.1:g.117282575C>A	GRCh37
NC_000007.12:g.117069811C>A	NCBI36
NG_016465.4:g.181738C>A , LRG_663:g.181738C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*10C>A	ENSP00000497673.2:n.*10C>A
ENST00000647978.2:c.*3515C>A	ENSP00000497658.1:n.*3515C>A
ENST00000649781.2:c.3618C>A	ENSP00000497203.1:p.Ile1206=
ENST00000685018.2:c.3801C>A	ENSP00000510194.2:p.Ile1267=
ENST00000687278.2:c.*454C>A	ENSP00000509593.2:n.*454C>A
ENST00000699585.1:c.*10C>A	ENSP00000514456.1:n.*10C>A
ENST00000699598.1:c.3801C>A	ENSP00000514467.1:p.Ile1267=
ENST00000699599.1:c.3801C>A	ENSP00000514468.1:p.Ile1267=
ENST00000699600.1:c.*462C>A	ENSP00000514469.1:n.*462C>A
ENST00000699601.1:c.*2176C>A	ENSP00000514470.1:n.*2176C>A
ENST00000699602.1:c.3795C>A	ENSP00000514471.1:p.Ile1265=
ENST00000699604.1:c.*3625C>A	ENSP00000514472.1:n.*3625C>A
ENST00000699605.1:c.3375C>A	ENSP00000514473.1:p.Ile1125=
ENST00000685018.1:c.549C>A	ENSP00000510194.1:p.Ile183=
ENST00000687278.1:c.1588C>A	ENSP00000509593.1:n.1588C>A
ENST00000689011.1:c.383C>A
ENST00000003084.11:c.3801C>A MANE Select	ENSP00000003084.6:p.Ile1267=
ENST00000647720.1:c.1251C>A
ENST00000649781.1:c.3618C>A	ENSP00000497203.1:p.Ile1206=
ENST00000003084.10:c.3801C>A	ENSP00000003084.6:p.Ile1267=
ENST00000426809.5:c.3711C>A	ENSP00000389119.1:p.Ile1237=
NM_000492.3:c.3801C>A , LRG_663t1:c.3801C>A	NP_000483.3:p.Ile1267=
XM_011515751.1:c.3891C>A	XP_011514053.1:p.Ile1297=
XM_011515752.1:c.3891C>A	XP_011514054.1:p.Ile1297=
XM_011515753.1:c.3558C>A	XP_011514055.1:p.Ile1186=
XM_011515754.1:c.3558C>A	XP_011514056.1:p.Ile1186=
NM_000492.4:c.3801C>A MANE Select	NP_000483.3:p.Ile1267=