Canonical Allele Identifier: CA368975016

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1735067
• ClinVar RCV Id: RCV002355183
• MyVariant Identifiers: chr7:g.117282574T>A (hg19) ; chr7:g.117642520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642520T>A , CM000669.2:g.117642520T>A	GRCh38
NC_000007.13:g.117282574T>A , CM000669.1:g.117282574T>A	GRCh37
NC_000007.12:g.117069810T>A	NCBI36
NG_016465.4:g.181737T>A , LRG_663:g.181737T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*9T>A	ENSP00000497673.2:n.*9T>A
ENST00000647978.2:c.*3514T>A	ENSP00000497658.1:n.*3514T>A
ENST00000649781.2:c.3617T>A	ENSP00000497203.1:p.Ile1206Asn
ENST00000685018.2:c.3800T>A	ENSP00000510194.2:p.Ile1267Asn
ENST00000687278.2:c.*453T>A	ENSP00000509593.2:n.*453T>A
ENST00000699585.1:c.*9T>A	ENSP00000514456.1:n.*9T>A
ENST00000699598.1:c.3800T>A	ENSP00000514467.1:p.Ile1267Asn
ENST00000699599.1:c.3800T>A	ENSP00000514468.1:p.Ile1267Asn
ENST00000699600.1:c.*461T>A	ENSP00000514469.1:n.*461T>A
ENST00000699601.1:c.*2175T>A	ENSP00000514470.1:n.*2175T>A
ENST00000699602.1:c.3794T>A	ENSP00000514471.1:p.Ile1265Asn
ENST00000699604.1:c.*3624T>A	ENSP00000514472.1:n.*3624T>A
ENST00000699605.1:c.3374T>A	ENSP00000514473.1:p.Ile1125Asn
ENST00000685018.1:c.548T>A	ENSP00000510194.1:p.Ile183Asn
ENST00000687278.1:c.1587T>A	ENSP00000509593.1:n.1587T>A
ENST00000689011.1:c.382T>A
ENST00000003084.11:c.3800T>A MANE Select	ENSP00000003084.6:p.Ile1267Asn
ENST00000647720.1:c.1250T>A
ENST00000649781.1:c.3617T>A	ENSP00000497203.1:p.Ile1206Asn
ENST00000003084.10:c.3800T>A	ENSP00000003084.6:p.Ile1267Asn
ENST00000426809.5:c.3710T>A	ENSP00000389119.1:p.Ile1237Asn
NM_000492.3:c.3800T>A , LRG_663t1:c.3800T>A	NP_000483.3:p.Ile1267Asn
XM_011515751.1:c.3890T>A	XP_011514053.1:p.Ile1297Asn
XM_011515752.1:c.3890T>A	XP_011514054.1:p.Ile1297Asn
XM_011515753.1:c.3557T>A	XP_011514055.1:p.Ile1186Asn
XM_011515754.1:c.3557T>A	XP_011514056.1:p.Ile1186Asn
NM_000492.4:c.3800T>A MANE Select	NP_000483.3:p.Ile1267Asn