Canonical Allele Identifier: CA4451683

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618957
• ClinVar RCV Id: RCV000757872 ; RCV001269211 ; RCV001805838 ; RCV001825503
• dbSNP Id: rs762847468
• ExAC: 7:117306996 C / A
• gnomAD v2: 7-117306996-C-A
• gnomAD v4: 7-117666942-C-A
• MyVariant Identifiers: chr7:g.117306996C>A (hg19) ; chr7:g.117666942C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666942C>A , CM000669.2:g.117666942C>A	GRCh38
NC_000007.13:g.117306996C>A , CM000669.1:g.117306996C>A	GRCh37
NC_000007.12:g.117094232C>A	NCBI36
NG_016465.4:g.206159C>A , LRG_663:g.206159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*486C>A	ENSP00000497673.2:n.*486C>A
ENST00000647978.2:c.*3991C>A	ENSP00000497658.1:n.*3991C>A
ENST00000649781.2:c.4094C>A	ENSP00000497203.1:p.Ser1365Tyr
ENST00000685018.2:c.*490C>A	ENSP00000510194.2:n.*490C>A
ENST00000687278.2:c.*896-660C>A	ENSP00000509593.2:n.*896-660C>A
ENST00000699585.1:c.*746C>A	ENSP00000514456.1:n.*746C>A
ENST00000699598.1:c.4270C>A	ENSP00000514467.1:p.Pro1424Thr
ENST00000699599.1:c.*490C>A	ENSP00000514468.1:n.*490C>A
ENST00000699600.1:c.*904-660C>A	ENSP00000514469.1:n.*904-660C>A
ENST00000699601.1:c.*2652C>A	ENSP00000514470.1:n.*2652C>A
ENST00000699602.1:c.4271C>A	ENSP00000514471.1:p.Ser1424Tyr
ENST00000699604.1:c.*4101C>A	ENSP00000514472.1:n.*4101C>A
ENST00000699605.1:c.3851C>A	ENSP00000514473.1:p.Ser1284Tyr
ENST00000699606.1:n.3788C>A
ENST00000685018.1:c.1141C>A	ENSP00000510194.1:n.1141C>A
ENST00000687278.1:c.2030-660C>A	ENSP00000509593.1:n.2030-660C>A
ENST00000689011.1:c.1119C>A
ENST00000003084.11:c.4277C>A MANE Select	ENSP00000003084.6:p.Ser1426Tyr
ENST00000647720.1:c.1727C>A
ENST00000649781.1:c.4094C>A	ENSP00000497203.1:p.Ser1365Tyr
ENST00000003084.10:c.4277C>A	ENSP00000003084.6:p.Ser1426Tyr
ENST00000426809.5:c.4187C>A	ENSP00000389119.1:p.Ser1396Tyr
ENST00000600166.1:c.368+1378C>A
NM_000492.3:c.4277C>A , LRG_663t1:c.4277C>A	NP_000483.3:p.Ser1426Tyr
XM_011515751.1:c.4367C>A	XP_011514053.1:p.Ser1456Tyr
XM_011515753.1:c.4034C>A	XP_011514055.1:p.Ser1345Tyr
XM_011515754.1:c.4034C>A	XP_011514056.1:p.Ser1345Tyr
NM_000492.4:c.4277C>A MANE Select	NP_000483.3:p.Ser1426Tyr