Canonical Allele Identifier: CA457231078

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1913199
• ClinVar RCV Id: RCV002593692
• gnomAD v4: 7-117666913-A-T
• MyVariant Identifiers: chr7:g.117306967A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666913A>T , CM000669.2:g.117666913A>T	GRCh38
NC_000007.13:g.117306967A>T , CM000669.1:g.117306967A>T	GRCh37
NC_000007.12:g.117094203A>T	NCBI36
NG_016465.4:g.206130A>T , LRG_663:g.206130A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*457A>T	ENSP00000497673.2:n.*457A>T
ENST00000647978.2:c.*3962A>T	ENSP00000497658.1:n.*3962A>T
ENST00000649781.2:c.4065A>T	ENSP00000497203.1:p.Ile1355=
ENST00000685018.2:c.*461A>T	ENSP00000510194.2:n.*461A>T
ENST00000687278.2:c.*896-689A>T	ENSP00000509593.2:n.*896-689A>T
ENST00000699585.1:c.*717A>T	ENSP00000514456.1:n.*717A>T
ENST00000699598.1:c.4243-2A>T	ENSP00000514467.1:n.4243-2A>T
ENST00000699599.1:c.*461A>T	ENSP00000514468.1:n.*461A>T
ENST00000699600.1:c.*904-689A>T	ENSP00000514469.1:n.*904-689A>T
ENST00000699601.1:c.*2623A>T	ENSP00000514470.1:n.*2623A>T
ENST00000699602.1:c.4242A>T	ENSP00000514471.1:p.Ile1414=
ENST00000699604.1:c.*4072A>T	ENSP00000514472.1:n.*4072A>T
ENST00000699605.1:c.3822A>T	ENSP00000514473.1:p.Ile1274=
ENST00000699606.1:n.3759A>T
ENST00000685018.1:c.1112A>T	ENSP00000510194.1:n.1112A>T
ENST00000687278.1:c.2030-689A>T	ENSP00000509593.1:n.2030-689A>T
ENST00000689011.1:c.1090A>T
ENST00000003084.11:c.4248A>T MANE Select	ENSP00000003084.6:p.Ile1416=
ENST00000647720.1:c.1698A>T
ENST00000649781.1:c.4065A>T	ENSP00000497203.1:p.Ile1355=
ENST00000003084.10:c.4248A>T	ENSP00000003084.6:p.Ile1416=
ENST00000426809.5:c.4158A>T	ENSP00000389119.1:p.Ile1386=
ENST00000600166.1:c.368+1349A>T
NM_000492.3:c.4248A>T , LRG_663t1:c.4248A>T	NP_000483.3:p.Ile1416=
XM_011515751.1:c.4338A>T	XP_011514053.1:p.Ile1446=
XM_011515753.1:c.4005A>T	XP_011514055.1:p.Ile1335=
XM_011515754.1:c.4005A>T	XP_011514056.1:p.Ile1335=
NM_000492.4:c.4248A>T MANE Select	NP_000483.3:p.Ile1416=